Variant (rsID / SNP)

rs886038978

rs886038978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,697,868. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACTA2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:90697868
Cytoband: 10q23.31
HGVS: NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter)
Allele change: Silent

Associated conditions / phenotypes

Cardiovascular phenotype|Aortic aneurysm, familial thoracic 6

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.