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Variant (rsID / SNP)

rs121909448

GLYCTK

rs121909448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLYCTK. Location: chromosome 3, position 52,327,048. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLYCTKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:52327048
Cytoband
3p21.2
HGVS
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
Allele change
Silent

Associated conditions / phenotypes

D-Glyceric aciduria

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.