Variant (rsID / SNP)
rs45578741
rs45578741 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP. Location: chromosome 17, position 37,822,174. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TCAPBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:37822174
- Cytoband
- 17q12
- HGVS
- NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
- Allele change
- Missense_R106C
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2G|Hypertrophic cardiomyopathy 25|Hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.