Variant (rsID / SNP)

rs121909286

rs121909286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,309,964. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACVRL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:52309964
Cytoband: 12q13.13
HGVS: NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn)
Allele change: Missense_I398N

Associated conditions / phenotypes

Telangiectasia, hereditary hemorrhagic, type 2

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.