|| common in clinvar
|| carrier for glycogen storage disease, type 1A
|| Glycogen storage disease, type 1A
, also known as R83C or Arg83Cys, is a SNP in the glucose-6-phosphatase G6PC
gene. The common allele is rs1801175
Observed to date primarily in Ashkenazi Jews, at a frequency of about 1 in 100, the rs1801175(T) allele is associated with Glycogen storage disease type 1A; heterozgyotes are unaffected carriers, homozygote rs1801175(T;T) will have the disease. However, the mutation alone does not predict the severity of the disease.[PMID 15316959]
Note that 23andMe tests for this SNP using their own terminology (i3002486).
See also: OMIM 232200.0002
[PMID 2172641] Diagnosis of a novel glycogen storage disease: type 1aSP.
[PMID 7814621] Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
[PMID 8182131] Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
[PMID 8211187] Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
[PMID 9332655] Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.