Variant (rsID / SNP)
rs80356482
rs80356482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC1. Location: chromosome 17, position 41,061,435. Clinical significance in the table: Pathogenic.
Reference-table entries
G6PC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41061435
- Cytoband
- 17q21.31
- HGVS
- NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
- Allele change
- Missense_R162K
Associated conditions / phenotypes
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.