Variant (rsID / SNP)

rs397516683

rs397516683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,701,577. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ACTA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:90701577
Cytoband: 10q23.31
HGVS: NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)
Allele change: Missense_A140V

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|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.