---
-
allele_string: C/T
assembly_name: GRCh38
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 55181378
id: CM054664
phenotype_or_disease: 1
seq_region_name: 7
somatic: 1
start: 55181378
strand: 1
-
allele_string: COSMIC_MUTATION
end: 55181378
id: COSV51765492
phenotype_or_disease: 1
seq_region_name: 7
somatic: 1
start: 55181378
strand: 1
var_synonyms:
COSMIC:
- COSM6240
-
allele_string: C/T
clin_sig:
- likely_pathogenic
- pathogenic
- drug_response
- protective
clin_sig_allele: T:drug_response;T:pathogenic;T:pathogenic/likely_pathogenic;T:likely_pathogenic;T:protective
end: 55181378
frequencies:
T:
gnomade: '6.156e-06'
gnomade_afr: '2.987e-05'
gnomade_amr: '2.236e-05'
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_mid: 0
gnomade_nfe: '6.295e-06'
gnomade_remaining: 0
gnomade_sas: 0
gnomadg: '4.599e-05'
gnomadg_afr: '7.237e-05'
gnomadg_ami: 0
gnomadg_amr: 0
gnomadg_asj: 0
gnomadg_eas: 0
gnomadg_fin: 0
gnomadg_mid: 0
gnomadg_nfe: '5.879e-05'
gnomadg_remaining: 0
gnomadg_sas: 0
id: rs121434569
phenotype_or_disease: 1
pubmed:
- 22992668
- 25157968
- 28158543
- 21430269
- 20068085
- 15118073
- 15118125
- 15329413
- 23102728
- 15901872
- 22215752
- 11423618
- 15272417
- 15728811
- 15737014
- 16258541
- 17020982
- 17085664
- 17332364
- 17510392
- 18093943
- 18227510
- 18596266
- 18981003
- 18992959
- 19096324
- 19381876
- 19589612
- 20033049
- 20129249
- 21194487
- 21233402
- 21248300
- 21252721
- 21531810
- 21921847
- 22452896
- 22588155
- 23540867
- 23816963
- 24065731
- 24202392
- 24453288
- 24478319
- 24623981
- 24636847
- 24658966
- 24729716
- 24736066
- 24736080
- 24893891
- 25668228
- 25923549
- 25923550
- 26515464
- 26720284
- 27074804
- 25477325
- 36388934
- 36164570
- 37425402
- 38431735
seq_region_name: 7
start: 55181378
strand: 1
var_synonyms:
ClinVar:
- RCV001787805
- RCV001823098
- RCV003466864
- RCV001588815
- RCV001015308
- RCV000154233
- RCV000154232
- RCV000211319
- RCV000557450
- RCV000425417
- RCV000018088
- VCV000016613
- RCV003996105
OMIM:
- '131550.0006'
PharmGKB:
- PA166157528
UniProt:
- VAR_026098
end: 55181378
id: rs121434569
input: rs121434569
most_severe_consequence: missense_variant
seq_region_name: 7
start: 55181378
strand: 1
transcript_consequences:
-
amino_acids: T/M
biotype: protein_coding
cdna_end: 2630
cdna_start: 2630
cds_end: 2369
cds_start: 2369
codons: aCg/aTg
consequence_terms:
- missense_variant
domains:
-
db: ENSP_mappings
name: 1m14
-
db: ENSP_mappings
name: 1m17
-
db: ENSP_mappings
name: 1xkk
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db: ENSP_mappings
name: 2eb2
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db: ENSP_mappings
name: 2eb3
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db: ENSP_mappings
name: 2gs2
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db: ENSP_mappings
name: 2gs6
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db: ENSP_mappings
name: 2gs7
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db: ENSP_mappings
name: 2gs7
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db: ENSP_mappings
name: 2itn
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db: ENSP_mappings
name: 2ito
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db: ENSP_mappings
name: 2itp
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db: ENSP_mappings
name: 2itq
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db: ENSP_mappings
name: 2itt
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 2jit
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 2jiv
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db: ENSP_mappings
name: 2jiv
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 2rfe
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db: ENSP_mappings
name: 2rfe
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db: ENSP_mappings
name: 2rfe
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db: ENSP_mappings
name: 2rfe
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db: ENSP_mappings
name: 2rgp
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db: ENSP_mappings
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db: ENSP_mappings
name: 3gop
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db: ENSP_mappings
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db: ENSP_mappings
name: 3gt8
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db: ENSP_mappings
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db: ENSP_mappings
name: 3gt8
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db: ENSP_mappings
name: 3ika
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db: ENSP_mappings
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
name: 3lzb
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 3ug2
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 4jq7
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db: ENSP_mappings
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db: ENSP_mappings
name: 4jr3
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db: ENSP_mappings
name: 4jrv
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db: ENSP_mappings
name: 4li5
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db: ENSP_mappings
name: 4ll0
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db: ENSP_mappings
name: 4ll0
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db: ENSP_mappings
name: 4lqm
-
db: ENSP_mappings
name: 4lrm
-
db: ENSP_mappings
name: 4lrm
-
db: ENSP_mappings
name: 4lrm
-
db: ENSP_mappings
name: 4lrm
-
db: ENSP_mappings
name: 4lrm
-
db: ENSP_mappings
name: 4r3p
-
db: ENSP_mappings
name: 4r3r
-
db: ENSP_mappings
name: 4r5s
-
db: ENSP_mappings
name: 4riw
-
db: ENSP_mappings
name: 4riw
-
db: ENSP_mappings
name: 4rix
-
db: ENSP_mappings
name: 4rix
-
db: ENSP_mappings
name: 4riy
-
db: ENSP_mappings
name: 4riy
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db: ENSP_mappings
name: 4rj4
-
db: ENSP_mappings
name: 4rj5
-
db: ENSP_mappings
name: 4rj6
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db: ENSP_mappings
name: 4rj7
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db: ENSP_mappings
name: 4rj8
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db: ENSP_mappings
name: 4tks
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db: ENSP_mappings
name: 4wd5
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db: ENSP_mappings
name: 4wd5
-
db: ENSP_mappings
name: 4wkq
-
db: ENSP_mappings
name: 4wrg
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db: ENSP_mappings
name: 4zau
-
db: ENSP_mappings
name: 4zjv
-
db: ENSP_mappings
name: 4zjv
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db: ENSP_mappings
name: 4zse
-
db: ENSP_mappings
name: 4zse
-
db: ENSP_mappings
name: 4zse
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db: ENSP_mappings
name: 4zse
-
db: ENSP_mappings
name: 5c8k
-
db: ENSP_mappings
name: 5c8m
-
db: ENSP_mappings
name: 5c8n
-
db: ENSP_mappings
name: 5cal
-
db: ENSP_mappings
name: 5can
-
db: ENSP_mappings
name: 5cao
-
db: ENSP_mappings
name: 5cap
-
db: ENSP_mappings
name: 5caq
-
db: ENSP_mappings
name: 5cas
-
db: ENSP_mappings
name: 5cau
-
db: ENSP_mappings
name: 5cav
-
db: ENSP_mappings
name: 5cnn
-
db: ENSP_mappings
name: 5cnn
-
db: ENSP_mappings
name: 5cno
-
db: ENSP_mappings
name: 5cno
-
db: ENSP_mappings
name: 5cno
-
db: ENSP_mappings
name: 5czh
-
db: ENSP_mappings
name: 5czi
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db: ENSP_mappings
name: 5d41
-
db: ENSP_mappings
name: 5d41
-
db: ENSP_mappings
name: 5edp
-
db: ENSP_mappings
name: 5edq
-
db: ENSP_mappings
name: 5edr
-
db: ENSP_mappings
name: 5em5
-
db: ENSP_mappings
name: 5em6
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db: ENSP_mappings
name: 5em7
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db: ENSP_mappings
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db: ENSP_mappings
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-
db: ENSP_mappings
name: 5fee
-
db: ENSP_mappings
name: 5feq
-
db: ENSP_mappings
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-
db: ENSP_mappings
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-
db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 5gty
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db: ENSP_mappings
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db: ENSP_mappings
name: 5gty
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db: ENSP_mappings
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db: ENSP_mappings
name: 5gty
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db: ENSP_mappings
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-
db: ENSP_mappings
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-
db: ENSP_mappings
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db: ENSP_mappings
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-
db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 7jxq
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db: ENSP_mappings
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db: ENSP_mappings
name: 7jxw
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db: ENSP_mappings
name: 7jxw
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db: ENSP_mappings
name: 7jxw
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
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db: ENSP_mappings
name: 7k1h
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db: ENSP_mappings
name: 7k1h
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db: ENSP_mappings
name: 7k1i
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db: ENSP_mappings
name: 7kxz
-
db: ENSP_mappings
name: 7ky0
-
db: ENSP_mappings
name: 7ky0
-
db: ENSP_mappings
name: 7ky0
-
db: ENSP_mappings
name: 7ky0
-
db: ENSP_mappings
name: 7lg8
-
db: ENSP_mappings
name: 7lg8
-
db: ENSP_mappings
name: 7lg8
-
db: ENSP_mappings
name: 7lg8
-
db: ENSP_mappings
name: 7lgs
-
db: ENSP_mappings
name: 7lgs
-
db: ENSP_mappings
name: 7lgs
-
db: ENSP_mappings
name: 7lgs
-
db: ENSP_mappings
name: 7ltx
-
db: ENSP_mappings
name: 7ltx
-
db: ENSP_mappings
name: 7ltx
-
db: ENSP_mappings
name: 7ltx
-
db: ENSP_mappings
name: 7oxb
-
db: ENSP_mappings
name: 7si1
-
db: ENSP_mappings
name: 7syd
-
db: ENSP_mappings
name: 7syd
-
db: ENSP_mappings
name: 7sye
-
db: ENSP_mappings
name: 7sye
-
db: ENSP_mappings
name: 7sz0
-
db: ENSP_mappings
name: 7sz0
-
db: ENSP_mappings
name: 7sz1
-
db: ENSP_mappings
name: 7sz1
-
db: ENSP_mappings
name: 7sz5
-
db: ENSP_mappings
name: 7sz5
-
db: ENSP_mappings
name: 7sz7
-
db: ENSP_mappings
name: 7sz7
-
db: ENSP_mappings
name: 7t4i
-
db: ENSP_mappings
name: 7t4j
-
db: ENSP_mappings
name: 7t4j
-
db: ENSP_mappings
name: 7tvd
-
db: ENSP_mappings
name: 7u98
-
db: ENSP_mappings
name: 7u98
-
db: ENSP_mappings
name: 7u98
-
db: ENSP_mappings
name: 7u98
-
db: ENSP_mappings
name: 7u99
-
db: ENSP_mappings
name: 7u9a
-
db: ENSP_mappings
name: 7ukv
-
db: ENSP_mappings
name: 7ukw
-
db: ENSP_mappings
name: 7ukw
-
db: ENSP_mappings
name: 7ukw
-
db: ENSP_mappings
name: 7ukw
-
db: ENSP_mappings
name: 7vra
-
db: ENSP_mappings
name: 7vre
-
db: ENSP_mappings
name: 7zym
-
db: ENSP_mappings
name: 7zyn
-
db: ENSP_mappings
name: 7zyp
-
db: ENSP_mappings
name: 7zyq
-
db: ENSP_mappings
name: 7zyq
-
db: ENSP_mappings
name: 8a27
-
db: ENSP_mappings
name: 8a2a
-
db: ENSP_mappings
name: 8a2b
-
db: ENSP_mappings
name: 8a2d
-
db: ENSP_mappings
name: 8d73
-
db: ENSP_mappings
name: 8d73
-
db: ENSP_mappings
name: 8d76
-
db: ENSP_mappings
name: 8d76
-
db: ENSP_mappings
name: 8dsw
-
db: ENSP_mappings
name: 8eme
-
db: ENSP_mappings
name: 8eme
-
db: ENSP_mappings
name: 8f1h
-
db: ENSP_mappings
name: 8f1w
-
db: ENSP_mappings
name: 8f1w
-
db: ENSP_mappings
name: 8f1w
-
db: ENSP_mappings
name: 8f1w
-
db: ENSP_mappings
name: 8f1x
-
db: ENSP_mappings
name: 8f1y
-
db: ENSP_mappings
name: 8f1z
-
db: ENSP_mappings
name: 8fv3
-
db: ENSP_mappings
name: 8fv3
-
db: ENSP_mappings
name: 8fv3
-
db: ENSP_mappings
name: 8fv3
-
db: ENSP_mappings
name: 8fv4
-
db: ENSP_mappings
name: 8fv4
-
db: ENSP_mappings
name: 8fv4
-
db: ENSP_mappings
name: 8fv4
-
db: ENSP_mappings
name: 8g63
-
db: ENSP_mappings
name: 8gb4
-
db: ENSP_mappings
name: 8gb4
-
db: ENSP_mappings
name: 8gb4
-
db: ENSP_mappings
name: 8gb4
-
db: ENSP_mappings
name: 8gk5
-
db: ENSP_mappings
name: 8gk5
-
db: ENSP_mappings
name: 8gk5
-
db: ENSP_mappings
name: 8gk5
-
db: ENSP_mappings
name: 8h7x
-
db: ENSP_mappings
name: 8h7x
-
db: ENSP_mappings
name: 8hv1
-
db: ENSP_mappings
name: 8hv2
-
db: ENSP_mappings
name: 8hv3
-
db: ENSP_mappings
name: 8hv4
-
db: ENSP_mappings
name: 8hv5
-
db: ENSP_mappings
name: 8hv6
-
db: ENSP_mappings
name: 8hv7
-
db: ENSP_mappings
name: 8hv8
-
db: ENSP_mappings
name: 8hv9
-
db: ENSP_mappings
name: 8hva
-
db: ENSP_mappings
name: 8hy7
-
db: ENSP_mappings
name: 8kfq
-
db: ENSP_mappings
name: 8pnz
-
db: ENSP_mappings
name: 8po0
-
db: ENSP_mappings
name: 8po1
-
db: ENSP_mappings
name: 8po2
-
db: ENSP_mappings
name: 8po2
-
db: ENSP_mappings
name: 8po2
-
db: ENSP_mappings
name: 8po3
-
db: ENSP_mappings
name: 8po4
-
db: ENSP_mappings
name: 8po4
-
db: ENSP_mappings
name: 8sc7
-
db: ENSP_mappings
name: 8tjl
-
db: ENSP_mappings
name: 8to3
-
db: ENSP_mappings
name: 8to3
-
db: ENSP_mappings
name: 8to3
-
db: ENSP_mappings
name: 8to3
-
db: ENSP_mappings
name: 8to4
-
db: ENSP_mappings
name: 8to4
-
db: ENSP_mappings
name: 8to4
-
db: ENSP_mappings
name: 8to4
-
db: ENSP_mappings
name: 8wd4
-
db: Transmembrane_helices
name: TMhelix
-
db: SMART
name: SM00219
-
db: Superfamily
name: SSF56112
-
db: CDD
name: cd05108
-
db: PANTHER
name: PTHR24416
-
db: PROSITE_profiles
name: PS50011
-
db: Phobius
name: CYTOPLASMIC_DOMAIN
-
db: Prints
name: PR00109
-
db: Pfam
name: PF07714
-
db: Gene3D
name: 3
-
db: PIRSF
name: PIRSF000619
-
db: ENSP_mappings
name: AF
gene_id: ENSG00000146648
gene_symbol: EGFR
gene_symbol_source: HGNC
hgnc_id: HGNC:3236
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: 1
protein_end: 790
protein_start: 790
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000275493
variant_allele: T
-
biotype: lncRNA
cdna_end: 1230
cdna_start: 1230
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000224057
gene_symbol: EGFR-AS1
gene_symbol_source: HGNC
hgnc_id: HGNC:40207
impact: MODIFIER
strand: -1
transcript_id: ENST00000442411
variant_allele: T
-
amino_acids: T/M
biotype: protein_coding
cdna_end: 2517
cdna_start: 2517
cds_end: 2210
cds_start: 2210
codons: aCg/aTg
consequence_terms:
- missense_variant
domains:
-
db: Gene3D
name: 3
-
db: Phobius
name: CYTOPLASMIC_DOMAIN
-
db: Pfam
name: PF07714
-
db: PIRSF
name: PIRSF000619
-
db: Prints
name: PR00109
-
db: PROSITE_profiles
name: PS50011
-
db: PANTHER
name: PTHR24416
-
db: SMART
name: SM00219
-
db: Superfamily
name: SSF56112
-
db: Transmembrane_helices
name: TMhelix
-
db: CDD
name: cd05108
gene_id: ENSG00000146648
gene_symbol: EGFR
gene_symbol_source: HGNC
hgnc_id: HGNC:3236
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: 1
protein_end: 737
protein_start: 737
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000450046
variant_allele: T
-
amino_acids: T/M
biotype: protein_coding
cdna_end: 2491
cdna_start: 2491
cds_end: 2234
cds_start: 2234
codons: aCg/aTg
consequence_terms:
- missense_variant
domains:
-
db: SMART
name: SM00219
-
db: PIRSF
name: PIRSF000619
-
db: Gene3D
name: 3
-
db: Pfam
name: PF07714
-
db: PROSITE_profiles
name: PS50011
-
db: CDD
name: cd05108
-
db: Prints
name: PR00109
-
db: Superfamily
name: SSF56112
-
db: PANTHER
name: PTHR24416
-
db: Phobius
name: CYTOPLASMIC_DOMAIN
-
db: ENSP_mappings
name: AF
gene_id: ENSG00000146648
gene_symbol: EGFR
gene_symbol_source: HGNC
hgnc_id: HGNC:3236
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.727'
protein_end: 745
protein_start: 745
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000455089
variant_allele: T
-
amino_acids: T/M
biotype: protein_coding
cdna_end: 718
cdna_start: 718
cds_end: 719
cds_start: 719
codons: aCg/aTg
consequence_terms:
- missense_variant
domains:
-
db: Gene3D
name: 3
-
db: Phobius
name: CYTOPLASMIC_DOMAIN
-
db: Pfam
name: PF07714
-
db: PROSITE_profiles
name: PS50011
-
db: PANTHER
name: PTHR24416
-
db: SMART
name: SM00219
-
db: Superfamily
name: SSF56112
flags:
- cds_start_NF
gene_id: ENSG00000146648
gene_symbol: EGFR
gene_symbol_source: HGNC
hgnc_id: HGNC:3236
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.426'
protein_end: 240
protein_start: 240
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000700145
variant_allele: T
-
biotype: lncRNA
consequence_terms:
- downstream_gene_variant
distance: 321
gene_id: ENSG00000224057
gene_symbol: EGFR-AS1
gene_symbol_source: HGNC
hgnc_id: HGNC:40207
impact: MODIFIER
strand: -1
transcript_id: ENST00000836806
variant_allele: T