Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Arg484Trp (p.R484W)
(
ENST00000713619.1,
ENST00000547400.6,
ENST00000551576.6,
ENST00000419526.6,
ENST00000388922.9,
ENST00000550683.5 )
ACVRL1 p.Arg484Trp (p.R484W) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000713619.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) AND not provided
- ClinVar Allele ID
- 23291
- ClinVar RefSeq Alternation Syntax
- NM_000020.3:c.1450C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077401.2:c.1450C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001564363
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs