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Variant (rsID / SNP)

rs727502878

ACTA2

rs727502878 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,699,352. 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
10:90699352
Cytoband
10q23.31
HGVS
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)
Allele change
Silent

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.