Variant (rsID / SNP)

rs121912677

rs121912677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,085,527. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACTC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:35085527
Cytoband: 15q14
HGVS: NM_005159.5(ACTC1):c.373A>G (p.Met125Val)
Allele change: Silent

Associated conditions / phenotypes

Atrial septal defect 5

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.