Variant (rsID / SNP)

rs727504354

rs727504354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,354,834. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TPM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:63354834
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu)
Allele change: Missense_D254E

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.