Variant (rsID / SNP)
rs45458802
rs45458802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP. Location: chromosome 17, position 37,822,049. Clinical significance in the table: Benign.
Reference-table entries
TCAPBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:37822049
- Cytoband
- 17q12
- HGVS
- NM_003673.4(TCAP):c.191C>T (p.Ser64Leu)
- Allele change
- Missense_S64L
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.