Annotation Detail

Information
Associated Genes
GJB2
Associated Variants
GJB2 p.Leu56ArgfsTer26 (p.L56Rfs*26) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Leu56ArgfsTer26 (p.L56Rfs*26) ( ENST00000382844.2, ENST00000382848.5 )
Associated Disease
Autosomal recessive nonsyndromic hearing loss 1A
Source Database
ClinVar
Description
NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Autosomal recessive nonsyndromic hearing loss 1A
ClinVar Allele ID
32049
ClinVar RefSeq Alternation Syntax
NM_004004.6:c.167del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-04-28
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000018534
ClinVar Disease
Autosomal recessive nonsyndromic hearing loss 1A
Observed Origin Sample
germline
Observed Origin Sample
unknown
Pubmed
9819448
Drugs