Variant (rsID / SNP)
rs45509691
rs45509691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP, PNMT. Location: chromosome 17, position 37,822,279. Clinical significance in the table: Uncertain significance.
Reference-table entries
TCAPUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:37822279
- Cytoband
- 17q12
- HGVS
- NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)
- Allele change
- Missense_P141A
Associated conditions / phenotypes
Cardiomyopathy|Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 25|Autosomal recessive limb-girdle muscular dystrophy type 2G
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.