ACVRL1 Chromosome 12

Activin A receptor like type 1
452 variants 452 Health Risk

Upload your DNA to see your personal genotypes for variants in ACVRL1.

What This Gene Does
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Type 1 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000139567
Associated Conditions (18)
Cardiovascular phenotype
Telangiectasia
hereditary hemorrhagic
type 2
Pulmonary hypertension
primary
1
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Haemorrhagic telangiectasia 2
Hereditary hemorrhagic telangiectasia
ACVRL1-related disorder
Thyroid cancer
nonmedullary
Pulmonary arterial hypertension
Clear cell carcinoma of kidney
Hereditary factor VIII deficiency disease
See cases
Epistaxis
Key Variants
RS1057523573
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
Health Risk
RS1060503239
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 2
Health Risk
RS1060503247
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 2
Health Risk
RS1085307413
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS1085307421
Conflicting classifications of pathogenicity
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
Health Risk
RS113700354
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1283365095
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 2
Health Risk
RS1295923763
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 2
Health Risk
RS139380315
Conflicting classifications of pathogenicity
Haemorrhagic telangiectasia 2, Telangiectasia, hereditary hemorrhagic
Health Risk
RS141653630
Conflicting classifications of pathogenicity
Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
Health Risk
RS141764916
Conflicting classifications of pathogenicity
Haemorrhagic telangiectasia 2, Telangiectasia, hereditary hemorrhagic
Health Risk
RS143735377
Conflicting classifications of pathogenicity
Telangiectasia, hereditary hemorrhagic, type 2
Health Risk
All Variants (452)
RSID Category Clinical Significance Conditions
RS2139075900 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139075930 Health Risk Pathogenic —
RS2139077020 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139084154 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139084277 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139084336 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139089146 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139089160 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540157034 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158104 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158127 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158136 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158145 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540158250 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540158265 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540158384 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158393 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158399 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158414 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540158727 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540158762 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540158812 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158947 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540159161 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540159312 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540159358 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160334 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540160434 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540160443 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160515 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540160601 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160709 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540160726 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160873 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160953 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540161015 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540161536 Health Risk Pathogenic —
RS2540161639 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540161650 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540161714 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540162561 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540162613 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540162624 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540162715 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540162760 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540162764 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540162791 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540162912 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164081 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164135 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
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