Variant (rsID / SNP)

rs397517065

rs397517065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,084,672. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ACTC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:35084672
Cytoband: 15q14
HGVS: NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)
Allele change: Silent

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Inborn genetic diseases

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.