PANK2 G126A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(PANK2 Gly126Ala)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • C @ chr20:3870124: 94.0% (7456/7936) in EVS
  • C @ chr20:3818123: 91.7% (22/24) in GET-Evidence
  • Frequency shown in summary reports: 94.0% (7456/7936)
































GS18501 - var-GS18501-1100-36-ASM
hom C @ chr20:3818124


GS18505 - var-GS18505-1100-36-ASM
hom C @ chr20:3818124


GS18558 - var-GS18558-1100-36-ASM
hom C @ chr20:3818124


GS18942 - var-GS18942-1100-36-ASM
het C @ chr20:3818124


GS18947 - var-GS18947-1100-36-ASM
het C @ chr20:3818124


GS19670 - var-GS19670-1100-36-ASM
hom C @ chr20:3818124


GS20509 - var-GS20509-1100-36-ASM
hom C @ chr20:3818124


GS21767 - var-GS21767-1100-36-ASM
hom C @ chr20:3818124




Other external references

  • rs3737084
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • Reference SNP(refSNP) Cluster Report: rs3737084
    Database of Single Nucleotide Polymorphism ... EGP_SNPS|PANK2-002208. fwd/ C/G. 04/16/08. 04/16/08. 130. Genomic. unknown. ss106175702. BGI|BGI_rs3737084. fwd/ C/G. 09/13/08. 06/18/09. 130 ...
  • PDGene
    PDGene, a database that aims to provide an unbiased, centralized, publicly available and regularly updated collection of genetic association studies performed on PD ...
  • Parkinson Disease Knowledgebase
    PANK2. Variation Impact. Negative Result[3] Variation Type. Missense mutation[3] Studied ... p.G126A[1] Variation positions (DNA or mRNA) c.137A>T[1] c.332T>A[1] ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in