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Variant (rsID / SNP)

rs199773697

ACTA2

rs199773697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,707,072. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACTA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:90707072
Cytoband
10q23.31
HGVS
NM_001613.4(ACTA2):c.201G>C (p.Leu67_Thr68=)
Allele change
Synonymous_L67L

Associated conditions / phenotypes

Multisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6

Public references

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