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Variant (rsID / SNP)

rs199476312

TPM1

rs199476312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,353,090. 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
15:63353090
Cytoband
15q22.2
HGVS
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)
Allele change
Missense_I172T

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy

Public references

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