Variant (rsID / SNP)

rs199476319

rs199476319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPM1. Location: chromosome 15, position 63,354,814. 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: 15:63354814
Cytoband: 15q22.2
HGVS: NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu)
Allele change: Missense_K248E

Associated conditions / phenotypes

Left ventricular noncompaction 9

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.