Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Lys122Ile (p.K122I)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Lys122Ile (p.K122I) ( ENST00000382844.2, ENST00000382848.5 ) - Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) AND Hearing loss
- ClinVar Allele ID
- 53909
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.365A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-12-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000678882
- Observed Origin Sample
- germline
Drugs