Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val37Ile (p.V37I)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.109G>A (p.Val37Ile) AND Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Allele ID
- 32062
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.109G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018550
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
- Pubmed
- 10982180
- Pubmed
- 9529365
- Pubmed
- 12121355
- Pubmed
- 31160754
- Pubmed
- 17036313
- Pubmed
- 16840571
- Pubmed
- 17041943
- Pubmed
- 17935238
Drugs