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Variant (rsID / SNP)

rs121434526

ACTA2

rs121434526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,701,551. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACTA2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:90701551
Cytoband
10q23.31
HGVS
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)
Allele change
Missense_R149C

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 2|Cardiovascular phenotype

Public references

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