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
RS1060503246 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503249 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1064796070 Health Risk Pathogenic —
RS1064796530 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1085307404 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307407 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307408 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307412 Health Risk Pathogenic Pulmonary hypertension, primary, 1
RS1085307414 Health Risk Pathogenic Pulmonary hypertension, primary, 1
RS1085307418 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
RS1085307420 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307422 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia
RS1085307423 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307424 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307425 Health Risk Pathogenic Pulmonary hypertension, primary, 1
RS1085307426 Health Risk Pathogenic Pulmonary hypertension, primary, 1
RS1085307427 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307429 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
RS1085307872 Health Risk Pathogenic —
RS111710113 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1166311240 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS121909284 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS121909285 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS121909286 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS121909289 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia
RS1221689111 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1226848374 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1301762186 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1318118188 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1318446539 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS139142865 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1422629205 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1427299751 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS143872998 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1463725277 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS148057374 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152345 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152440 Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1555152447 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152455 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS1555152526 Health Risk Pathogenic —
RS1555152548 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152650 Health Risk Pathogenic —
RS1555152710 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152771 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152774 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152786 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152815 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152909 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152935 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
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