Variant (rsID / SNP)

rs267606632

rs267606632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,306,964. 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: 12:52306964
Cytoband: 12q13.13
HGVS: NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)
Allele change: Missense_G48E

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.