Variant (rsID / SNP)

rs138048445

rs138048445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACVRL1. Location: chromosome 12, position 52,308,279. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACVRL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:52308279
Cytoband: 12q13.13
HGVS: NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
Allele change: Missense_V228I

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.