---
-
allele_string: C/G/T
assembly_name: GRCh38
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 48224287
id: CM062373
phenotype_or_disease: 1
seq_region_name: 16
start: 48224287
strand: 1
-
allele_string: COSMIC_MUTATION
end: 48224287
id: COSV62323034
phenotype_or_disease: 1
seq_region_name: 16
somatic: 1
start: 48224287
strand: 1
var_synonyms:
COSMIC:
- COSM4987072
-
allele_string: C/G/T
clin_sig:
- benign
clin_sig_allele: T:benign
clin_sig_ref_allele: C
end: 48224287
frequencies:
G:
gnomade: '2.052e-06'
gnomade_afr: 0
gnomade_amr: '2.237e-05'
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_mid: 0
gnomade_nfe: '1.799e-06'
gnomade_remaining: 0
gnomade_sas: 0
T:
af: '0.3009'
afr: '0.0121'
amr: '0.1398'
eas: '0.7798'
eur: '0.1362'
gnomade: '0.168'
gnomade_afr: '0.02184'
gnomade_amr: '0.1601'
gnomade_asj: '0.1086'
gnomade_eas: '0.875'
gnomade_fin: '0.2289'
gnomade_mid: '0.08408'
gnomade_nfe: '0.1278'
gnomade_remaining: '0.1742'
gnomade_sas: '0.4041'
gnomadg: '0.1416'
gnomadg_afr: '0.02848'
gnomadg_ami: '0.3103'
gnomadg_amr: '0.1125'
gnomadg_asj: '0.1132'
gnomadg_eas: '0.8388'
gnomadg_fin: '0.2432'
gnomadg_mid: '0.07483'
gnomadg_nfe: '0.1281'
gnomadg_remaining: '0.1252'
gnomadg_sas: '0.4262'
sas: '0.4816'
id: rs17822931
phenotype_or_disease: 1
pubmed:
- 21467728
- 16255080
- 19737746
- 18817904
- 35176104
- 29895819
- 21589938
- 30971527
- 25887915
- 27027309
- 33334016
- 35078690
- 34951141
- 16444273
- 17394018
- 18037328
- 19650936
- 19710689
- 20937735
- 21423094
- 23325016
- 23760047
- 24019265
- 28485377
- 29602456
- 30047321
- 30883634
- 34551727
- 23445748
- 32206879
- 28212277
- 34626111
- 28098149
- 34410389
- 33801148
- 29091727
- 34440458
- 27268641
- 30072632
- 24316925
- 25501636
- 27903959
- 30898518
- 29343290
- 23516368
- 26606244
- 34888675
- 29180914
- 28369217
- 17803354
- 36909514
- 37183951
- 27057547
- 23316210
- 26634572
- 27281343
- 21182469
- 16901678
- 17897868
- 37934781
- 38020162
- 38890579
- 39543265
- 40801133
- 20718756
- 40687795
- 35561686
- 40465716
seq_region_name: 16
start: 48224287
strand: 1
var_synonyms:
ClinVar:
- RCV000003739
- RCV000003738
- RCV000003737
- VCV000003558
- RCV004714398
OMIM:
- '607040.0001'
PharmGKB:
- PA166155121
UniProt:
- VAR_025438
end: 48224287
id: rs17822931
input: rs17822931
most_severe_consequence: missense_variant
seq_region_name: 16
start: 48224287
strand: 1
transcript_consequences:
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 602
cdna_start: 602
cds_end: 538
cds_start: 538
codons: Ggg/Cgg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: 1
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000353782
variant_allele: G
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 602
cdna_start: 602
cds_end: 538
cds_start: 538
codons: Ggg/Agg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: 1
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000353782
variant_allele: T
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 782
cdna_start: 782
cds_end: 538
cds_start: 538
codons: Ggg/Cgg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.922'
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000356608
variant_allele: G
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 782
cdna_start: 782
cds_end: 538
cds_start: 538
codons: Ggg/Agg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.922'
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000356608
variant_allele: T
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 888
cdna_start: 888
cds_end: 538
cds_start: 538
codons: Ggg/Cgg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.922'
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000394747
variant_allele: G
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 888
cdna_start: 888
cds_end: 538
cds_start: 538
codons: Ggg/Agg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.922'
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000394747
variant_allele: T
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 602
cdna_start: 602
cds_end: 538
cds_start: 538
codons: Ggg/Cgg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.922'
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000394748
variant_allele: G
-
amino_acids: G/R
biotype: protein_coding
cdna_end: 602
cdna_start: 602
cds_end: 538
cds_start: 538
codons: Ggg/Agg
consequence_terms:
- missense_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.922'
protein_end: 180
protein_start: 180
sift_prediction: deleterious
sift_score: 0
strand: -1
transcript_id: ENST00000394748
variant_allele: T
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- upstream_gene_variant
distance: 580
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODIFIER
strand: -1
transcript_id: ENST00000565487
variant_allele: G
-
biotype: protein_coding_CDS_not_defined
consequence_terms:
- upstream_gene_variant
distance: 580
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODIFIER
strand: -1
transcript_id: ENST00000565487
variant_allele: T
-
biotype: retained_intron
cdna_end: 936
cdna_start: 936
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODIFIER
strand: -1
transcript_id: ENST00000567385
variant_allele: G
-
biotype: retained_intron
cdna_end: 936
cdna_start: 936
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODIFIER
strand: -1
transcript_id: ENST00000567385
variant_allele: T
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 61
flags:
- cds_end_NF
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODIFIER
strand: -1
transcript_id: ENST00000569991
variant_allele: G
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 61
flags:
- cds_end_NF
gene_id: ENSG00000121270
gene_symbol: ABCC11
gene_symbol_source: HGNC
hgnc_id: HGNC:14639
impact: MODIFIER
strand: -1
transcript_id: ENST00000569991
variant_allele: T