| Geno
|
Mag
|
Summary
|
| (C;C)
|
5
|
glycogen storage disease type 1b disease allele
|
| (C;T)
|
3
|
carrier for glycogen storage disease type 1b disease allele
|
| (T;T)
|
0
|
common in clinvar
|
rs80356489, also known as Trp118Arg or W118R, is a SNP in the solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 gene.
This mutation is reported by 23andMe as accounting for approximately 40% of glycogen storage disease type 1b-causing mutations in people of Japanese ancestry; 23andMe uses the term i5012878 for this SNP.
[PMID 9675154] Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
[PMID 10385064] Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.
[PMID 10482875] Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.
[PMID 12373566] Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
[PMID 15059622] Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
[PMID 9675154] Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
