Annotation Detail
Information
- Associated Genes
- CRYAA
- Associated Variants
-
CRYAA p.Ala155Asp (p.A155D)
(
ENST00000291554.6,
ENST00000398132.1,
ENST00000398133.5 )
CRYAA p.Ala155Asp (p.A155D) ( ENST00000291554.6, ENST00000398132.1, ENST00000398133.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp) AND not specified
- ClinVar Allele ID
- 346594
- ClinVar RefSeq Alternation Syntax
- NM_001363766.1:c.353C>A
- ClinVar RefSeq Alternation Syntax
- NM_000394.4:c.464C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-07-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004021849
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs