Variant (rsID / SNP)

rs397515325

rs397515325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,707,128. 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: 10:90707128
Cytoband: 10q23.31
HGVS: NM_001613.4(ACTA2):c.145A>G (p.Met49Val)
Allele change: Missense_M49V

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 6

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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