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Variant (rsID / SNP)

rs199476316

TPM1

rs199476316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,354,418. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TPM1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:63354418
Cytoband
15q22.2
HGVS
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
Allele change
Missense_S215L

Associated conditions / phenotypes

Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1Y

Public references

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