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Variant (rsID / SNP)

rs200173919

TPM1

rs200173919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,353,097. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TPM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:63353097
Cytoband
15q22.2
HGVS
NM_001018005.2(TPM1):c.522C>T (p.Ser174=)
Allele change
Synonymous_S174S

Associated conditions / phenotypes

Dilated cardiomyopathy 1Y|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 3

Public references

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