Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs730880406

ACTC1

rs730880406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,082,749. 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
15:35082749
Cytoband
15q14
HGVS
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)
Allele change
Silent

Associated conditions / phenotypes

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.