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Variant (rsID / SNP)

rs368450665

G6PC1

rs368450665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC1. Location: chromosome 17, position 41,056,067. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

G6PC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:41056067
Cytoband
17q21.31
HGVS
NM_000151.4(G6PC1):c.340+10C>A
Allele change
Silent

Associated conditions / phenotypes

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA|Glycogen storage disease, type I

Public references

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