Variant (rsID / SNP)

rs113994132

rs113994132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,379,098. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:100379098
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.3965del (p.Val1322fs)

Associated conditions / phenotypes

Glycogen storage disease IIIa|Glycogen storage disease type III

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.