Variant (rsID / SNP)

rs121912676

rs121912676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,085,632. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ACTC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:35085632
Cytoband: 15q14
HGVS: NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
Allele change: Silent

Associated conditions / phenotypes

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

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.