Annotation Detail
Information
- Associated Genes
- CRYAA
- Associated Variants
-
CRYAA c.*376G>C
(
ENST00000291554.6 )
CRYAA c.*376G>C ( ENST00000291554.6 ) - Associated Disease
- cataract 9 multiple types
- Source Database
- ClinVar
- Description
- NM_000394.4(CRYAA):c.*376G>C AND Cataract 9 multiple types
- Observed Origin Sample
- germline
- ClinVar Disease
- Cataract 9 multiple types
- ClinVar Allele ID
- 351822
- ClinVar RefSeq Alternation Syntax
- NM_000394.4:c.*376G>C
- ClinVar RefSeq Alternation Syntax
- NM_001363766.1:c.*376G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000262619
Drugs