Variant (rsID / SNP)

rs104894501

rs104894501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,336,229. Clinical significance in the table: Pathogenic.

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Reference-table entries

TPM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:63336229
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys)
Allele change: Silent

Associated conditions / phenotypes

Dilated cardiomyopathy 1Y

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.