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
RS2540164230 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164261 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164298 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164313 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164315 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540164341 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164351 Health Risk Pathogenic —
RS2540164407 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164448 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164499 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164593 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164669 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164709 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164787 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164860 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164963 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540165022 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540166457 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540166738 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540170618 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540170764 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540170766 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540170917 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540174456 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540174515 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS28936399 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS28936688 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS368437392 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS387906391 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS387906392 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS387906394 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS542810348 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS556168617 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS56080682 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS750720985 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS754283265 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS757645341 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS758683062 Health Risk Pathogenic Pulmonary hypertension, primary, 1
RS762287966 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS762773076 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS763899082 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS769850351 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS775754117 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS779485996 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS863223409 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS863223410 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS863223413 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS863223414 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS863223415 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS863223417 Health Risk Pathogenic —
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