Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Cys344Tyr (p.C344Y)
(
ENST00000419526.6,
ENST00000550683.5,
ENST00000388922.9,
ENST00000551576.6,
ENST00000552678.2,
ENST00000547400.6,
ENST00000713619.1 )
ACVRL1 p.Cys344Tyr (p.C344Y) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) AND not provided
- ClinVar Allele ID
- 23293
- ClinVar RefSeq Alternation Syntax
- NM_001077401.2:c.1031G>A
- ClinVar RefSeq Alternation Syntax
- NM_000020.3:c.1031G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001507809
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs