Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 c.-23+1G>A
(
ENST00000382848.5 )
GJB2 c.-23+1G>A ( ENST00000382848.5 ) - Associated Disease
- Ear malformation
- Source Database
- ClinVar
- Description
- NM_004004.6(GJB2):c.-23+1G>A AND Ear malformation
- ClinVar Allele ID
- 32068
- ClinVar RefSeq Alternation Syntax
- NM_004004.6:c.-23+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813995
- ClinVar Disease
- Ear malformation
- Observed Origin Sample
- germline
Drugs