Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.235del (p.Leu79fs) AND Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Allele ID
- 32053
- Clinical Significance Description
- 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/RCV000018538
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
- Pubmed
- 14505035
- Pubmed
- 10607953
- Pubmed
- 19050930
- Pubmed
- 12384781
- Pubmed
- 10633133
- Pubmed
- 17505205
Drugs