Annotation Detail

Information

Associated Genes: GJB2
Associated Variants: GJB2 p.Met34Thr (p.M34T) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382844.2, ENST00000382848.5 )
Associated Disease: Autosomal recessive nonsyndromic hearing loss 1A
Source Database: ClinVar
Description: NM_004004.6(GJB2):c.101T>C (p.Met34Thr) AND Autosomal recessive nonsyndromic hearing loss 1A
ClinVar Allele ID: 32039
ClinVar RefSeq Alternation Syntax: NM_004004.6:c.101T>C
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2023-06-02
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000018523
ClinVar Disease: Autosomal recessive nonsyndromic hearing loss 1A
Observed Origin Sample: germline
Observed Origin Sample: unknown
Observed Origin Sample: paternal
Pubmed: 9529365
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Pubmed: 15235031
Pubmed: 9422505
Pubmed: 12176036
Pubmed: 11134236
Pubmed: 12384501
Pubmed: 10903123
Pubmed: 2956987
Pubmed: 31160754
Pubmed: 25262649
Pubmed: 9139825
Pubmed: 9716127
Pubmed: 10757647
Pubmed: 17041943
Pubmed: 17935238

Drugs