Variant (rsID / SNP)

rs104894565

rs104894565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PC1. Location: chromosome 17, position 41,053,006. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

G6PC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:41053006
Cytoband: 17q21.31
HGVS: NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
Allele change: Missense_D38V

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.