chr13:20763686:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,686-20,763,686
hg38 chr13:20,189,547-20,189,547 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.35G>A NP_003995.2:p.Gly12Asp
Ensemble ENST00000382848.5:c.35G>A ENST00000382848.5:p.Gly12Asp
ENST00000382844.2:c.35G>A ENST00000382844.2:p.Gly12Asp
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 2017-04-04 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Uncertain significance 2022-12-27 criteria provided, single submitter not provided germline Detail
Uncertain significance 2021-12-08 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.034 nonsyndromic deafness In a NSHI family, inheritance of the rs117685390 C allele segregated on independ... BeFree 23640091 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural The most common GJB2 gene mutations in Estonian children with early onset hearin... BeFree 20708129 Detail
0.012 Hearing Loss, Mixed Conductive-Sensorineural Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in G... BeFree 14759569 Detail
0.345 Sensorineural Hearing Loss (disorder) The proband was a 3-month-old infant with a congenital profound sensorineural he... BeFree 23812555 Detail
0.001 Congenital deafness Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in G... BeFree 14759569 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations... BeFree 21056478 Detail
0.011 Congenital deafness Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in G... BeFree 14759569 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural Phenotypic variability of non-syndromic hearing loss in patients heterozygous fo... BeFree 14759569 Detail
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.034 nonsyndromic deafness Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients wit... BeFree 20096468 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) AND not specified ClinVar Detail
In a NSHI family, inheritance of the rs117685390 C allele segregated on independent chromosomes with... DisGeNET Detail
The most common GJB2 gene mutations in Estonian children with early onset hearing loss were c.35delG... DisGeNET Detail
Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction w... DisGeNET Detail
The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct s... DisGeNET Detail
Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction w... DisGeNET Detail
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with he... DisGeNET Detail
Remarkably, the severity of hearing loss due to heterozygosity for c.35delG in GJB2 in conjunction w... DisGeNET Detail
Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of G... DisGeNET Detail
NA DisGeNET Detail
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic heari... 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
rs1801002 dbSNP
Genome
hg19
Position
chr13:20,763,686-20,763,686
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
119884
Allele Counts in All Race (ExAC)
15
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
1.2512095025191017E-4
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