Variant (rsID / SNP)
rs193922680
rs193922680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,085,599. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ACTC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:35085599
- Cytoband
- 15q14
- HGVS
- NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
- Allele change
- Silent
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 11|Left ventricular noncompaction 4|Primary familial hypertrophic cardiomyopathy|Atrial septal defect 5|Dilated cardiomyopathy 1R|Hypertrophic cardiomyopathy 11|Cardiomyopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1R
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.