Variant (rsID / SNP)

rs886039303

rs886039303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,701,067. 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: 10:90701067
Cytoband: 10q23.31
HGVS: NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)
Allele change: Missense_R179C

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 6|Familial aortopathy|Multisystemic smooth muscle dysfunction syndrome

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.