rs121434528
A SNP in the ACTA2 gene on chromosome 10. Its most notable genotype is A;G: Thoracic aortic aneurysm and dissection (TAAD) mutation
- Gene
- ACTA2
- Location
- Chr 1088,939,543 (GRCh38)
- Highest magnitude
- 7.1Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs121434528 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ACTA2 SNPs
- rs112602953C;TFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs112901682C;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs121434526A;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs121434527C;TFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs387906592C;TFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
Notes
From SNPedia
Notes
rs121434528, also known as c.772C>T, p.Arg258Cys and R258C, represents a rare mutation in the ACTA2 gene on chromosome 10. The R258C mutation is one of several dominant mutations in the ACTA2 gene associated with significantly greater risk and early onset of familial thoracic aortic aneurysm and dissection (TAAD) and moyamoya-like cerebrovascular disease. Moyamoya, a rare disease in which arteries at the base of the brain are blocked, usually strikes in childhood but can occur in adults. Strokes or ministrokes (transient ischemic attacks) are often the first symptoms of the condition.
A;G
see discussion at rs121434528
Source and license
Adapted from rs121434528 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.