ACVRL1 Chromosome 12

Activin A receptor like type 1
452 variants 452 Health Risk

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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
RS1940808154 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940812366 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940813766 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940813954 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940814079 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940830552 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940834530 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940836063 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940836783 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940837338 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940906429 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940907688 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940908116 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940908396 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940908457 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940955180 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940955656 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS1940958854 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139062776 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064139 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064218 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064443 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064475 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064528 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064592 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064649 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139064757 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139065161 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139065347 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139065803 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067065 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067187 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067412 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067539 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067828 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067861 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067888 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139067969 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139068965 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139070294 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139070482 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139070714 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139072643 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139072772 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073064 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073155 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073551 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139073732 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139074041 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic, type 2
RS2139074368 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic
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