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Variant (rsID / SNP)

rs137852887

GBE1

rs137852887 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,695,554. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GBE1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:81695554
Cytoband
3p12.2
HGVS
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
Allele change
Missense_F257L

Associated conditions / phenotypes

Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV

Public references

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