Variant (rsID / SNP)

rs730881160

rs730881160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,354,815. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TPM1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:63354815
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr)
Allele change: Missense_K248T

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.