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Variant (rsID / SNP)

rs139142865

ACVRL1

rs139142865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,314,610. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ACVRL1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:52314610
Cytoband
12q13.13
HGVS
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
Allele change
Missense_A482V

Associated conditions / phenotypes

Haemorrhagic telangiectasia 2|Telangiectasia, hereditary hemorrhagic, type 2|Abnormal bleeding|Thrombocytopenia|Pulmonary arterial hypertension

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.