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Variant (rsID / SNP)

rs397516861

TCAP

rs397516861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCAP. Location: chromosome 17, position 37,821,990. 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
17:37821990
Cytoband
17q12
HGVS
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
Allele change
Synonymous_D44D

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 25|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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