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
RS760773605 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 2
RS762047618 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 2
RS768643771 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 2
RS779236098 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 2
RS863223411 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 2
RS1057519168 Health Risk Likely pathogenic —
RS1060503234 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503242 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1060503248 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1064794791 Health Risk Likely pathogenic —
RS1085307406 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1085307411 Health Risk Likely pathogenic Pulmonary hypertension, primary, 1
RS1085307415 Health Risk Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
RS1085307416 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1085307417 Health Risk Likely pathogenic Pulmonary hypertension, primary, 1
RS1085307419 Health Risk Likely pathogenic Pulmonary hypertension, primary, 1
RS1085307428 Health Risk Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic
RS1131691286 Health Risk Likely pathogenic —
RS1131691346 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype, Cardiovascular phenotype
RS1168929877 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1184716348 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1288729113 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152454 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152468 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1555152520 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565593274 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565594311 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565594467 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1565594547 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592221930 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592223392 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1592223964 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592224220 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592224291 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592224349 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592225036 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1592225044 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940766958 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940782891 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940782986 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940804969 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940807412 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940812948 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940838178 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940959530 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064874 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139065261 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139072795 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073840 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073925 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2
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