Variant (rsID / SNP)
rs202228866
rs202228866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,351,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TPM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:63351759
- Cytoband
- 15q22.2
- HGVS
- NM_001018005.2(TPM1):c.375-3C>T
- Allele change
- Silent
Associated conditions / phenotypes
Catecholaminergic polymorphic ventricular tachycardia 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 3|Dilated cardiomyopathy 1Y
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.