Variant (rsID / SNP)

rs1254836237

rs1254836237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,707,027. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ACTA2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:90707027
Cytoband: 10q23.31
HGVS: NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu)
Allele change: Missense_D82E

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.