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
RS1555152955 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153077 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153131 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153133 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153172 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153354 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153382 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153796 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153830 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153848 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555153854 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565594157 Health Risk Pathogenic —
RS1565594217 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS1565594238 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1565594536 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565594969 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565595009 Health Risk Pathogenic —
RS1565595121 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565595129 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565595176 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565596508 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592221459 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592221728 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592221830 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592222308 Health Risk Pathogenic Pulmonary arterial hypertension, Cardiovascular phenotype, Telangiectasia
RS1592223028 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592223399 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592223416 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592223468 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592223490 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592224087 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592224402 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592228303 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940729491 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940731395 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940731944 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940739463 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940750523 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940751311 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940751760 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940756257 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940757414 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940766819 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940780382 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940780439 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940782251 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940783683 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940784067 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940785759 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940805354 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
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