chr13:20763245:T>A Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,245-20,763,245
hg38 chr13:20,189,106-20,189,106 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.476A>T NP_003995.2:p.Asp159Val
Ensemble ENST00000382844.2:c.476A>T ENST00000382844.2:p.Asp159Val
ENST00000382848.5:c.476A>T ENST00000382848.5:p.Asp159Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 121011 OMIM
HGNC 4284 HGNC
Ensembl ENSG00000165474 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-01-18 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Uncertain significance 2022-04-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2022-03-28 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
Uncertain significance 2022-03-17 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,palmoplantar keratoderma-deafness syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) Exploring the clinical and epidemiological complexity of GJB2-linked deafness. UNIPROT 12239718 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND not specified ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28931592 dbSNP
Genome
hg19
Position
chr13:20,763,245-20,763,245
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121050
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6522098306484923E-5
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