Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Arg411Gln (p.R411Q)
(
ENST00000551576.6,
ENST00000388922.9,
ENST00000550683.5,
ENST00000419526.6,
ENST00000713619.1,
ENST00000547400.6,
ENST00000552678.2 )
ACVRL1 p.Arg411Gln (p.R411Q) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 ) - Associated Disease
- Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
- Source Database
- ClinVar
- Description
- NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
- ClinVar Allele ID
- 23282
- ClinVar RefSeq Alternation Syntax
- NM_000020.3:c.1232G>A
- ClinVar RefSeq Alternation Syntax
- NM_001077401.2:c.1232G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008727
- ClinVar Disease
- Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
- Observed Origin Sample
- germline
- Pubmed
- 14684682
- Pubmed
- 8640225
- Pubmed
- 15024723
Drugs