Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Leu90Pro (p.L90P)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Leu90Pro (p.L90P) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) AND Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Allele ID
- 32055
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.269T>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-29
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018541
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
- Pubmed
- 11313763
Drugs