Variant (rsID / SNP)

rs28936688

rs28936688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,309,267. 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: 12:52309267
Cytoband: 12q13.13
HGVS: NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
Allele change: Missense_C344Y

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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