Variant (rsID / SNP)

rs387906244

rs387906244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,387,137. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AGLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 1:100387137
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)

Associated conditions / phenotypes

Glycogen storage disease IIIa|Glycogen storage disease type III|Inborn genetic diseases

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.