Variant (rsID / SNP)

rs267606629

rs267606629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,082,750. 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: 15:35082750
Cytoband: 15q14
HGVS: NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)
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.