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Variant (rsID / SNP)

rs730880404

ACTC1

rs730880404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,083,337. 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
15:35083337
Cytoband
15q14
HGVS
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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