Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Trp50Cys (p.W50C)
(
ENST00000713619.1,
ENST00000552678.2,
ENST00000547400.6,
ENST00000551576.6,
ENST00000388922.9,
ENST00000550683.5,
ENST00000419526.6 )
ACVRL1 p.Trp50Cys (p.W50C) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 ) - Associated Disease
- Telangiectasia, hereditary hemorrhagic, type 2
- Source Database
- ClinVar
- Description
- NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) AND Telangiectasia, hereditary hemorrhagic, type 2
- ClinVar Allele ID
- 23285
- ClinVar RefSeq Alternation Syntax
- NM_000020.3:c.150G>T
- ClinVar RefSeq Alternation Syntax
- NM_001077401.2:c.150G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008730
- ClinVar Disease
- Telangiectasia, hereditary hemorrhagic, type 2
- Observed Origin Sample
- germline
- Pubmed
- 9245985
Drugs