chr13:20192783:C>A Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,766,922-20,766,922 View the variant detail on this assembly version.
hg38 chr13:20,192,783-20,192,783

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.-23G>T
Ensemble ENST00000382848.5:c.-23G>T
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 tgv382381221 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-01-26 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Likely pathogenic 2022-08-26 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2017-06-02 no assertion criteria provided germline Detail
Likely pathogenic 2023-12-15 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.-23G>T AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.-23G>T AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.-23G>T AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.-23G>T AND Nonsyndromic genetic hearing loss ClinVar Detail
NA 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
rs786204734 dbSNP
Genome
hg38
Position
chr13:20,192,783-20,192,783
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser