Variant (rsID / SNP)

rs104894566

rs104894566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC1. Location: chromosome 17, position 41,053,122. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

G6PC1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:41053122
Cytoband: 17q21.31
HGVS: NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)
Allele change: Missense_W77R

Associated conditions / phenotypes

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

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.