Variant (rsID / SNP)

rs113994130

rs113994130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,350,168. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:100350168
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
Allele change: Nonsense_R864X

Associated conditions / phenotypes

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.