Variant (rsID / SNP)
rs794728021
rs794728021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,708,572. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ACTA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:90708572
- Cytoband
- 10q23.31
- HGVS
- NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
- Allele change
- Missense_R39H
Associated conditions / phenotypes
Aortic aneurysm, familial thoracic 6|Cardiovascular phenotype|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.