GGH C6R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(GGH Cys6Arg)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr8:63951312: 22.8% (2416/10610) in EVS
  • G @ chr8:64113865: 6.0% (3/50) in GET-Evidence
  • Frequency shown in summary reports: 22.8% (2416/10610)


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PubMed PMID: 15284538


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PubMed PMID: 17286537





















GS18526 - var-GS18526-1100-36-ASM
het G @ chr8:64113866


Other external references

  • rs1800909
  • [Arthritis, Rheumatoid]
    This study found that only patients with the GGH 16C-allele and one or no copies of the GGH 452C-16T haplotype were associated with good clinical improvement at 3 months upon treatment with methotrexate.
  • [Precursor Cell Lymphoblastic Leukemia-Lymphoma]
    Patients (n= 66) with acute lymphoblastic leukemia showed large individual differences in cellular accumulation of long-chain MTXPG after high-dose methotrexate treatment. A SNP in the endoplasmic reticulum targeting sequence of human GGH, rs1800909 (16T>C), was detected in three acute lymphoblastic leukaemia patients with low GGH activity and four patients with high GGH activity.

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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