Variant (rsID / SNP)

rs45614332

rs45614332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP, PNMT. Location: chromosome 17, position 37,822,305. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TCAPConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:37822305
Cytoband: 17q12
HGVS: NM_003673.4(TCAP):c.447C>T (p.Pro149=)
Allele change: Synonymous_P149P

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.