Variant (rsID / SNP)

rs727504264

rs727504264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,353,134. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TPM1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:63353134
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln)
Allele change: Missense_E187Q

Associated conditions / phenotypes

Hypertrophic cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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