Variant (rsID / SNP)

rs121912675

rs121912675 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,083,416. 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: 15:35083416
Cytoband: 15q14
HGVS: NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)
Allele change: Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 11|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11

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.