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NM_000642.2(AGL):c.4259+5G>A AND Glycogen storage disease IIIb

Significance: Pathogenic
ClinVar: RCV000001164

Variant: NM_000642.2(AGL):c.4259+5G>A

Type: Variant
Allele: NM_000642.2(AGL):c.4259+5G>A 16144
Gene:
Type: single nucleotide variant
Location: Chr1: 100381047 - assembly GRCh37
Chr1: 99915491 - assembly GRCh38
References: OMIM: 610860.0012
dbSNP: 780504025

Condition

Disease: Glycogen storage disease IIIb

Citation

    For discussion of the splice site mutation in the AGL gene that was found in compound heterozygous state in a patient with glycogen storage disease type IIIb (GSD3B; 232400) by Okubo et al. (2000), see 610860.0011.
PMID:10925384