chr13:20189481:A>C Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,620-20,763,620 View the variant detail on this assembly version.
hg38 chr13:20,189,481-20,189,481

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.101T>G NP_003995.2:p.Met34Arg
Ensemble ENST00000382844.2:c.101T>G ENST00000382844.2:p.Met34Arg
ENST00000382848.5:c.101T>G ENST00000382848.5:p.Met34Arg
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 2009-02-19 no assertion criteria provided Rare genetic deafness germline Detail
Likely pathogenic 2022-12-16 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.065 Hearing Loss, Mixed Conductive-Sensorineural The most common GJB2 gene mutations in Estonian children with early onset hearin... BeFree 20708129 Detail
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural These data support the hypothesis of a functional role for M34T as a dominant al... BeFree 12176036 Detail
0.345 Sensorineural Hearing Loss (disorder) Genetic analysis of the connexin-26 M34T variant: identification of genotype M34... BeFree 11134236 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) AND not provided ClinVar Detail
The most common GJB2 gene mutations in Estonian children with early onset hearing loss were c.35delG... DisGeNET Detail
NA DisGeNET Detail
These data support the hypothesis of a functional role for M34T as a dominant allele and represent a... DisGeNET Detail
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating w... 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
rs35887622 dbSNP
Genome
hg38
Position
chr13:20,189,481-20,189,481
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser