---
-
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
-
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: '2.784e-05'
gnomade_afr: '0.000123'
gnomade_amr: '2.891e-05'
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_nfe: '3.517e-05'
gnomade_oth: 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_oth: 0
gnomadg_sas: 0
id: rs121434569
phenotype_or_disease: 1
seq_region_name: 7
start: 55181378
strand: 1
end: 55181378
id: rs121434569
input: rs121434569
most_severe_consequence: missense_variant
regulatory_feature_consequences:
-
biotype: CTCF_binding_site
consequence_terms:
- regulatory_region_variant
impact: MODIFIER
regulatory_feature_id: ENSR00000825954
variant_allele: T
-
biotype: enhancer
consequence_terms:
- regulatory_region_variant
impact: MODIFIER
regulatory_feature_id: ENSR00001273745
variant_allele: T
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
-
db: ENSP_mappings
name: 2eb2
-
db: ENSP_mappings
name: 2eb3
-
db: ENSP_mappings
name: 2gs2
-
db: ENSP_mappings
name: 2gs6
-
db: ENSP_mappings
name: 2gs7
-
db: ENSP_mappings
name: 2gs7
-
db: ENSP_mappings
name: 2itn
-
db: ENSP_mappings
name: 2ito
-
db: ENSP_mappings
name: 2itp
-
db: ENSP_mappings
name: 2itq
-
db: ENSP_mappings
name: 2itt
-
db: ENSP_mappings
name: 2itu
-
db: ENSP_mappings
name: 2itv
-
db: ENSP_mappings
name: 2itw
-
db: ENSP_mappings
name: 2itx
-
db: ENSP_mappings
name: 2ity
-
db: ENSP_mappings
name: 2itz
-
db: ENSP_mappings
name: 2j5e
-
db: ENSP_mappings
name: 2j5f
-
db: ENSP_mappings
name: 2j6m
-
db: ENSP_mappings
name: 2jit
-
db: ENSP_mappings
name: 2jit
-
db: ENSP_mappings
name: 2jiu
-
db: ENSP_mappings
name: 2jiu
-
db: ENSP_mappings
name: 2jiv
-
db: ENSP_mappings
name: 2jiv
-
db: ENSP_mappings
name: 2rf9
-
db: ENSP_mappings
name: 2rf9
-
db: ENSP_mappings
name: 2rfd
-
db: ENSP_mappings
name: 2rfd
-
db: ENSP_mappings
name: 2rfe
-
db: ENSP_mappings
name: 2rfe
-
db: ENSP_mappings
name: 2rfe
-
db: ENSP_mappings
name: 2rfe
-
db: ENSP_mappings
name: 2rgp
-
db: ENSP_mappings
name: 3bel
-
db: ENSP_mappings
name: 3gop
-
db: ENSP_mappings
name: 3gt8
-
db: ENSP_mappings
name: 3gt8
-
db: ENSP_mappings
name: 3gt8
-
db: ENSP_mappings
name: 3gt8
-
db: ENSP_mappings
name: 3ika
-
db: ENSP_mappings
name: 3ika
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3lzb
-
db: ENSP_mappings
name: 3poz
-
db: ENSP_mappings
name: 3ug1
-
db: ENSP_mappings
name: 3ug2
-
db: ENSP_mappings
name: 3vjn
-
db: ENSP_mappings
name: 3vjo
-
db: ENSP_mappings
name: 3w2o
-
db: ENSP_mappings
name: 3w2p
-
db: ENSP_mappings
name: 3w2q
-
db: ENSP_mappings
name: 3w2r
-
db: ENSP_mappings
name: 3w2s
-
db: ENSP_mappings
name: 3w32
-
db: ENSP_mappings
name: 3w33
-
db: ENSP_mappings
name: 4g5j
-
db: ENSP_mappings
name: 4g5p
-
db: ENSP_mappings
name: 4g5p
-
db: ENSP_mappings
name: 4hjo
-
db: ENSP_mappings
name: 4i1z
-
db: ENSP_mappings
name: 4i20
-
db: ENSP_mappings
name: 4i21
-
db: ENSP_mappings
name: 4i21
-
db: ENSP_mappings
name: 4i22
-
db: ENSP_mappings
name: 4i23
-
db: ENSP_mappings
name: 4i24
-
db: ENSP_mappings
name: 4i24
-
db: ENSP_mappings
name: 4jq7
-
db: ENSP_mappings
name: 4jq8
-
db: ENSP_mappings
name: 4jr3
-
db: ENSP_mappings
name: 4jrv
-
db: ENSP_mappings
name: 4li5
-
db: ENSP_mappings
name: 4ll0
-
db: ENSP_mappings
name: 4ll0
-
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
-
db: ENSP_mappings
name: 4rj4
-
db: ENSP_mappings
name: 4rj5
-
db: ENSP_mappings
name: 4rj6
-
db: ENSP_mappings
name: 4rj7
-
db: ENSP_mappings
name: 4rj8
-
db: ENSP_mappings
name: 4tks
-
db: ENSP_mappings
name: 4wd5
-
db: ENSP_mappings
name: 4wd5
-
db: ENSP_mappings
name: 4wkq
-
db: ENSP_mappings
name: 4wrg
-
db: ENSP_mappings
name: 4zau
-
db: ENSP_mappings
name: 4zjv
-
db: ENSP_mappings
name: 4zjv
-
db: ENSP_mappings
name: 4zse
-
db: ENSP_mappings
name: 4zse
-
db: ENSP_mappings
name: 4zse
-
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
-
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
-
db: ENSP_mappings
name: 5em7
-
db: ENSP_mappings
name: 5em8
-
db: ENSP_mappings
name: 5fed
-
db: ENSP_mappings
name: 5fee
-
db: ENSP_mappings
name: 5feq
-
db: ENSP_mappings
name: 5gmp
-
db: ENSP_mappings
name: 5gnk
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gty
-
db: ENSP_mappings
name: 5gtz
-
db: ENSP_mappings
name: 5hcx
-
db: ENSP_mappings
name: 5hcy
-
db: ENSP_mappings
name: 5hcz
-
db: ENSP_mappings
name: 5hg5
-
db: ENSP_mappings
name: 5hg7
-
db: ENSP_mappings
name: 5hg8
-
db: ENSP_mappings
name: 5hg9
-
db: ENSP_mappings
name: 5hib
-
db: ENSP_mappings
name: 5hic
-
db: ENSP_mappings
name: 5j9y
-
db: ENSP_mappings
name: 5j9z
-
db: ENSP_mappings
name: 5jeb
-
db: ENSP_mappings
name: 5u8l
-
db: ENSP_mappings
name: 5ug8
-
db: ENSP_mappings
name: 5ug9
-
db: ENSP_mappings
name: 5uga
-
db: ENSP_mappings
name: 5ugb
-
db: ENSP_mappings
name: 5ugc
-
db: ENSP_mappings
name: 5uwd
-
db: ENSP_mappings
name: 5x26
-
db: ENSP_mappings
name: 5x27
-
db: ENSP_mappings
name: 5x28
-
db: ENSP_mappings
name: 5x2a
-
db: ENSP_mappings
name: 5x2a
-
db: ENSP_mappings
name: 5x2a
-
db: ENSP_mappings
name: 5x2a
-
db: ENSP_mappings
name: 5x2c
-
db: ENSP_mappings
name: 5x2c
-
db: ENSP_mappings
name: 5x2f
-
db: ENSP_mappings
name: 5x2f
-
db: ENSP_mappings
name: 5x2f
-
db: ENSP_mappings
name: 5x2f
-
db: ENSP_mappings
name: 5x2k
-
db: ENSP_mappings
name: 5xdk
-
db: ENSP_mappings
name: 5xdl
-
db: ENSP_mappings
name: 5xgm
-
db: ENSP_mappings
name: 5xgn
-
db: ENSP_mappings
name: 5xgn
-
db: ENSP_mappings
name: 5y25
-
db: ENSP_mappings
name: 5y9t
-
db: ENSP_mappings
name: 5yu9
-
db: ENSP_mappings
name: 5yu9
-
db: ENSP_mappings
name: 5yu9
-
db: ENSP_mappings
name: 5yu9
-
db: ENSP_mappings
name: 5zto
-
db: ENSP_mappings
name: 5zwj
-
db: ENSP_mappings
name: 6d8e
-
db: ENSP_mappings
name: 6duk
-
db: ENSP_mappings
name: 6duk
-
db: ENSP_mappings
name: 6duk
-
db: ENSP_mappings
name: 6duk
-
db: ENSP_mappings
name: 6duk
-
db: ENSP_mappings
name: 6duk
-
db: ENSP_mappings
name: 6jrj
-
db: ENSP_mappings
name: 6jrk
-
db: ENSP_mappings
name: 6jrx
-
db: ENSP_mappings
name: 6jwl
-
db: ENSP_mappings
name: 6jx0
-
db: ENSP_mappings
name: 6jx4
-
db: ENSP_mappings
name: 6jxt
-
db: ENSP_mappings
name: 6jz0
-
db: ENSP_mappings
name: 6lub
-
db: ENSP_mappings
name: 6lud
-
db: ENSP_mappings
name: 6p1d
-
db: ENSP_mappings
name: 6p1d
-
db: ENSP_mappings
name: 6p1d
-
db: ENSP_mappings
name: 6p1d
-
db: ENSP_mappings
name: 6p1l
-
db: ENSP_mappings
name: 6p1l
-
db: ENSP_mappings
name: 6p1l
-
db: ENSP_mappings
name: 6p1l
-
db: ENSP_mappings
name: 6p8q
-
db: ENSP_mappings
name: 6p8q
-
db: ENSP_mappings
name: 6p8q
-
db: ENSP_mappings
name: 6p8q
-
db: ENSP_mappings
name: 6s89
-
db: ENSP_mappings
name: 6s8a
-
db: ENSP_mappings
name: 6s9b
-
db: ENSP_mappings
name: 6s9c
-
db: ENSP_mappings
name: 6s9d
-
db: ENSP_mappings
name: 6tfu
-
db: ENSP_mappings
name: 6tfu
-
db: ENSP_mappings
name: 6tfv
-
db: ENSP_mappings
name: 6tfv
-
db: ENSP_mappings
name: 6tfw
-
db: ENSP_mappings
name: 6tfw
-
db: ENSP_mappings
name: 6tfy
-
db: ENSP_mappings
name: 6tfy
-
db: ENSP_mappings
name: 6tfz
-
db: ENSP_mappings
name: 6tfz
-
db: ENSP_mappings
name: 6tg0
-
db: ENSP_mappings
name: 6tg0
-
db: ENSP_mappings
name: 6tg1
-
db: ENSP_mappings
name: 6tg1
-
db: ENSP_mappings
name: 6v5n
-
db: ENSP_mappings
name: 6v5n
-
db: ENSP_mappings
name: 6v5n
-
db: ENSP_mappings
name: 6v5n
-
db: ENSP_mappings
name: 6v5p
-
db: ENSP_mappings
name: 6v5p
-
db: ENSP_mappings
name: 6v5p
-
db: ENSP_mappings
name: 6v5p
-
db: ENSP_mappings
name: 6v66
-
db: ENSP_mappings
name: 6v66
-
db: ENSP_mappings
name: 6v66
-
db: ENSP_mappings
name: 6v66
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6k
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6v6o
-
db: ENSP_mappings
name: 6vh4
-
db: ENSP_mappings
name: 6vhn
-
db: ENSP_mappings
name: 6vhp
-
db: ENSP_mappings
name: 6wa2
-
db: ENSP_mappings
name: 6wa2
-
db: ENSP_mappings
name: 6wa2
-
db: ENSP_mappings
name: 6wa2
-
db: ENSP_mappings
name: 6wak
-
db: ENSP_mappings
name: 6wak
-
db: ENSP_mappings
name: 6wak
-
db: ENSP_mappings
name: 6wak
-
db: ENSP_mappings
name: 6wxn
-
db: ENSP_mappings
name: 6wxn
-
db: ENSP_mappings
name: 6wxn
-
db: ENSP_mappings
name: 6wxn
-
db: ENSP_mappings
name: 6xl4
-
db: ENSP_mappings
name: 6xl4
-
db: ENSP_mappings
name: 6xl4
-
db: ENSP_mappings
name: 6xl4
-
db: ENSP_mappings
name: 6z4b
-
db: ENSP_mappings
name: 6z4b
-
db: ENSP_mappings
name: 6z4d
-
db: ENSP_mappings
name: 6z4d
-
db: ENSP_mappings
name: 7a2a
-
db: ENSP_mappings
name: 7a2a
-
db: ENSP_mappings
name: 7a6i
-
db: ENSP_mappings
name: 7a6j
-
db: ENSP_mappings
name: 7a6j
-
db: ENSP_mappings
name: 7a6k
-
db: ENSP_mappings
name: 7a6k
-
db: ENSP_mappings
name: 7a6k
-
db: ENSP_mappings
name: 7a6k
-
db: ENSP_mappings
name: 7aei
-
db: ENSP_mappings
name: 7aem
-
db: ENSP_mappings
name: 7b85
-
db: ENSP_mappings
name: 7er2
-
db: ENSP_mappings
name: 7jxi
-
db: ENSP_mappings
name: 7jxi
-
db: ENSP_mappings
name: 7jxi
-
db: ENSP_mappings
name: 7jxi
-
db: ENSP_mappings
name: 7jxk
-
db: ENSP_mappings
name: 7jxk
-
db: ENSP_mappings
name: 7jxk
-
db: ENSP_mappings
name: 7jxk
-
db: ENSP_mappings
name: 7jxk
-
db: ENSP_mappings
name: 7jxk
-
db: ENSP_mappings
name: 7jxl
-
db: ENSP_mappings
name: 7jxl
-
db: ENSP_mappings
name: 7jxl
-
db: ENSP_mappings
name: 7jxl
-
db: ENSP_mappings
name: 7jxm
-
db: ENSP_mappings
name: 7jxm
-
db: ENSP_mappings
name: 7jxm
-
db: ENSP_mappings
name: 7jxm
-
db: ENSP_mappings
name: 7jxp
-
db: ENSP_mappings
name: 7jxp
-
db: ENSP_mappings
name: 7jxp
-
db: ENSP_mappings
name: 7jxp
-
db: ENSP_mappings
name: 7jxp
-
db: ENSP_mappings
name: 7jxp
-
db: ENSP_mappings
name: 7jxq
-
db: ENSP_mappings
name: 7jxq
-
db: ENSP_mappings
name: 7jxq
-
db: ENSP_mappings
name: 7jxq
-
db: ENSP_mappings
name: 7jxw
-
db: ENSP_mappings
name: 7jxw
-
db: ENSP_mappings
name: 7jxw
-
db: ENSP_mappings
name: 7jxw
-
db: ENSP_mappings
name: 7k1h
-
db: ENSP_mappings
name: 7k1h
-
db: ENSP_mappings
name: 7k1h
-
db: ENSP_mappings
name: 7k1h
-
db: ENSP_mappings
name: 7k1h
-
db: ENSP_mappings
name: 7k1h
-
db: ENSP_mappings
name: 7k1i
-
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: 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: Transmembrane_helices
name: TMhelix
-
db: CDD
name: cd05108
-
db: Gene3D
name: 3
-
db: Pfam
name: PF07714
-
db: PIRSF
name: PIRSF000619
-
db: SMART
name: SM00219
-
db: Superfamily
name: SSF56112
-
db: PROSITE_profiles
name: PS50011
-
db: PANTHER
name: PTHR24416
-
db: Prints
name: PR00109
-
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: 1221
cdna_start: 1221
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: 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: CDD
name: cd05108
-
db: Pfam
name: PF07714
-
db: PIRSF
name: PIRSF000619
-
db: Gene3D
name: 3
-
db: SMART
name: SM00219
-
db: Superfamily
name: SSF56112
-
db: PROSITE_profiles
name: PS50011
-
db: PANTHER
name: PTHR24416
-
db: Prints
name: PR00109
-
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: 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