Variant (rsID / SNP)
rs193922635
rs193922635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTN2. Location: chromosome 1, position 236,918,491. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ACTN2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:236918491
- Cytoband
- 1q43
- HGVS
- NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
- Allele change
- Missense_T716M
Associated conditions / phenotypes
Cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.