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Gene entry

ACVRL1

activin A receptor like type 1

Chromosome
12
Cytoband
12q13.13
Variants (rsID)
18

ACVRL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.13). Its official name is “activin A receptor like type 1”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs139142865Benignsingle nucleotide variantHaemorrhagic telangiectasia 2|Telangiectasia, hereditary hemorrhagic, type 2|Abnormal bleeding|Thrombocytopenia|Pulmonary arterial hypertension
  • rs2277382Benignsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2
  • rs138048445Conflicting interpretationssingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2
  • rs121909284Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • rs121909286Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2
  • rs121909287Pathogenicsingle nucleotide variantPulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|Telangiectasia, hereditary hemorrhagic, type 2
  • rs121909288Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|Pulmonary arterial hypertension
  • rs267606632Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2
  • rs28936399Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2
  • rs28936401Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
  • rs28936688Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|See cases

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.