Variant (rsID / SNP)

rs199476317

rs199476317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,354,462. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TPM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:63354462
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
Allele change: Missense_D230N

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 3|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.