Variant (rsID / SNP)
rs371271054
rs371271054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPK1. Location: chromosome 7, position 144,150,714. Clinical significance in the table: Pathogenic.
Reference-table entries
TPK1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:144150714
- Cytoband
- 7q35
- HGVS
- NM_022445.4(TPK1):c.656A>G (p.Asn219Ser)
- Allele change
- Missense_N113S
Associated conditions / phenotypes
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.