Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199476321

TPM1

rs199476321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,356,332. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TPM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:63356332
Cytoband
15q22.2
HGVS
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
Allele change
Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Primary familial 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.