Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs193922681

ACTC1

rs193922681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,086,943. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ACTC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:35086943
Cytoband
15q14
HGVS
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)
Allele change
Silent

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|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.