GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs) AND Glycogen storage disease IIIa

Significance: Pathogenic
ClinVar: RCV000001152

Variant: NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs)

Type: Variant
Allele: NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs) 16133
Gene:
Type: Duplication
Location: Chr1: 100387137 - assembly GRCh37
Chr1: 99921581 - assembly GRCh38
References: dbSNP: 387906244
OMIM: 610860.0001

Condition

Disease: Glycogen storage disease IIIa

Citation

    In a child with an unusually severe phenotype of glycogen storage disease type IIIa (GSD3A; 232400) manifested in both liver and muscle, Shen et al. (1997) identified a homozygous 1-bp insertion (4529insA) in the 3-prime coding region of the AGL gene. The mutation created a termination codon at residue 1510 of their sequence. (They stated that amino acid residue 1510 in their study corresponded to residue 1493 of the Yang et al. (1992) sequence.) The child had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly, and died at 4 years of age.
PMID:1374391, PMID:8990006