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Variant (rsID / SNP)

rs762567614

ACTA2

rs762567614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,701,576. 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
10:90701576
Cytoband
10q23.31
HGVS
NM_001613.4(ACTA2):c.420G>A (p.Ala140_Val141=)
Allele change
Synonymous_A140A

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Multisystemic smooth muscle dysfunction syndrome|Cardiovascular phenotype|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.