Annotation Detail
Information
- Associated Genes
- CRYAA
- Associated Variants
-
CRYAA p.Arg116His (p.R116H)
(
ENST00000291554.6,
ENST00000398132.1,
ENST00000398133.5 )
CRYAA p.Arg116His (p.R116H) ( ENST00000291554.6, ENST00000398132.1, ENST00000398133.5 ) - Associated Disease
- Cataract 9, multiple types, with microcornea
- Source Database
- ClinVar
- Description
- NM_000394.4(CRYAA):c.347G>A (p.Arg116His) AND Cataract 9, multiple types, with microcornea
- ClinVar Allele ID
- 31999
- ClinVar RefSeq Alternation Syntax
- NM_001363766.1:c.236G>A
- ClinVar RefSeq Alternation Syntax
- NM_000394.4:c.347G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018473
- ClinVar Disease
- Cataract 9, multiple types, with microcornea
- Observed Origin Sample
- germline
- Pubmed
- 18302245
- Pubmed
- 16564818
Drugs