Variant (rsID / SNP)

rs794728025

rs794728025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2. Location: chromosome 10, position 90,701,550. 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: 10:90701550
Cytoband: 10q23.31
HGVS: NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)
Allele change: Missense_R149L

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.