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Variant (rsID / SNP)

rs121909288

ACVRL1

rs121909288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,314,615. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACVRL1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:52314615
Cytoband
12q13.13
HGVS
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
Allele change
Missense_R484W

Associated conditions / phenotypes

Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|Pulmonary arterial hypertension

Public references

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