ACVRL1 Chromosome 12
Activin A receptor like type 1
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 |
|---|---|---|---|
| RS863223418 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS886043123 | Health Risk | Pathogenic | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
| RS962224649 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS999380946 | Health Risk | Pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1057521203 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1064794217 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1085307405 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS1085307409 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia |
| RS1085307410 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary hypertension, primary, 1 |
| RS1131691686 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS121909287 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS121909288 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1555152899 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS1555152966 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1555153126 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1555153277 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1555153828 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1555154144 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1565593639 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1565594524 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1565594920 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1565596498 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1592224385 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1592224412 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS191763644 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS1940767034 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1940804402 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1940807179 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1940813707 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1940833669 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS1940955941 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS2139068677 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS2139076978 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS2139076990 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS2139077046 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS2139084385 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS2540159181 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS2540162558 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS2540164690 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS2540166475 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic |
| RS267606632 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS28936687 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic |
| RS387906393 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS765895870 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS771606504 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS772776468 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS774389618 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS863223406 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |
| RS863223408 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension, Epistaxis, Telangiectasia |
| RS863223412 | Health Risk | Pathogenic/Likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 |