Variant (rsID / SNP)

rs200484871

rs200484871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,354,798. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TPM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:63354798
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.726G>A (p.Ala242=)
Allele change: Synonymous_A242A

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|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.