Variant (rsID / SNP)

rs397516370

rs397516370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,349,284. 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: 15:63349284
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly)
Allele change: Missense_E114G

Associated conditions / phenotypes

Primary dilated 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.