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
- not provided
- Source Database
- ClinVar
- Description
- NM_000394.4(CRYAA):c.347G>A (p.Arg116His) AND not provided
- 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
- 2022-12-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000483566
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs