chr13:20763612:C>A Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,612-20,763,612
hg38 chr13:20,189,473-20,189,473 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.109G>T NP_003995.2:p.Val37Phe
Ensemble ENST00000382844.2:c.109G>T ENST00000382844.2:p.Val37Phe
ENST00000382848.5:c.109G>T ENST00000382848.5:p.Val37Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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
Likely pathogenic 2013-10-05 criteria provided, single submitter Rare genetic deafness germline Detail
Likely pathogenic 2023-05-23 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural These data provide new information about carrier rates for GJB2-based hearing lo... BeFree 17041943 Detail
0.345 Sensorineural Hearing Loss (disorder) We present two East Asian patients with sensorineural hearing loss (SNHL) and co... BeFree 16952406 Detail
0.345 Sensorineural Hearing Loss (disorder) Homozygosity for the V37I Connexin 26 mutation in three unrelated children with ... BeFree 12121355 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pedia... BeFree 23637863 Detail
0.345 Sensorineural Hearing Loss (disorder) Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V3... BeFree 16840571 Detail
0.345 Sensorineural Hearing Loss (disorder) V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of... BeFree 17036313 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural A total of 199 (19.6%) babies were found to have at least 1 mutated allele on th... BeFree 21811586 Detail
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafnes... UNIPROT 10607953 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) AND not provided ClinVar Detail
NA DisGeNET Detail
These data provide new information about carrier rates for GJB2-based hearing loss in various ethnic... DisGeNET Detail
We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosit... DisGeNET Detail
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearin... DisGeNET Detail
Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and ... DisGeNET Detail
Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is commo... DisGeNET Detail
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. DisGeNET Detail
A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, ... DisGeNET Detail
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese po... 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
rs72474224 dbSNP
Genome
hg19
Position
chr13:20,763,612-20,763,612
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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