Variant (rsID / SNP)

rs375169579

rs375169579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPK1. Location: chromosome 7, position 144,288,512. Clinical significance in the table: Pathogenic.

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Reference-table entries

TPK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:144288512
Cytoband: 7q35
HGVS: NM_022445.4(TPK1):c.501+4A>T
Allele change: Silent

Associated conditions / phenotypes

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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.