Variant (rsID / SNP)
rs28936401
rs28936401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,309,891. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ACVRL1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52309891
- Cytoband
- 12q13.13
- HGVS
- NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
- Allele change
- Missense_R374W
Associated conditions / phenotypes
Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.