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Variant (rsID / SNP)

rs61752842

PCK2NRL

rs61752842 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCK2, NRL. Location: chromosome 14, position 24,566,139. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:24566139
Cytoband
14q11.2
HGVS
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
Allele change
Silent

Associated conditions / phenotypes

Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Public references

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