Variant (rsID / SNP)

rs1801175

rs1801175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC1. Location: chromosome 17, position 41,055,964. Clinical significance in the table: Pathogenic.

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Reference-table entries

G6PC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:41055964
Cytoband: 17q21.31
HGVS: NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
Allele change: Missense_R83C

Associated conditions / phenotypes

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA|Glycogen storage disease|Hypoglycemia|Short stature

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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