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Variant (rsID / SNP)

rs397517059

ACTC1

rs397517059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,085,590. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACTC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:35085590
Cytoband
15q14
HGVS
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.