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Variant (rsID / SNP)

rs201186470

PCK1

rs201186470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCK1. Location: chromosome 20, position 56,138,747. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:56138747
Cytoband
20q13.31
HGVS
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
Allele change
Missense_G309R

Associated conditions / phenotypes

Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Public references

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