Variant (rsID / SNP)

rs185631651

rs185631651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,584,403. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GBE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:81584403
Cytoband: 3p12.2
HGVS: NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
Allele change: Missense_N626S

Associated conditions / phenotypes

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

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.