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
RS2139073933 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073944 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139076336 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2139083899 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139084307 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540157150 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540158011 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158303 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158607 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540158883 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540158927 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540159366 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540159380 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160610 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540161495 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540162683 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164101 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164236 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164275 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540164531 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540164646 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164694 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540164775 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540164872 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164910 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164997 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540165040 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540166517 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540166760 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540170621 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS2540170652 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540170879 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540170898 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540170936 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2540174463 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540174684 Health Risk Likely pathogenic ACVRL1-related disorder, ACVRL1-related disorder
RS2540174697 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
RS28936401 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS750085854 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS763785885 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1057256890 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1057517944 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503235 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503236 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503237 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503238 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503240 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503241 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503243 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503245 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
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