Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs112602953

ACTA2

rs112602953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,703,570. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ACTA2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:90703570
Cytoband
10q23.31
HGVS
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)
Allele change
Missense_R118P

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 6|Cardiovascular phenotype|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.