Variant (rsID / SNP)
rs104894503
rs104894503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,353,098. Clinical significance in the table: Pathogenic.
Reference-table entries
TPM1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:63353098
- Cytoband
- 15q22.2
- HGVS
- NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
- Allele change
- Missense_D175N
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 3|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1Y|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.