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.

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Curation:
Currentness:

PANK2 G126A

(PANK2 Gly126Ala)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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

 

NA19240

 

Other external references
 

    dbSNP
  • rs3737084
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs3737084
  • PDGene
    PDGene, a database that aims to provide an unbiased, centralized, publicly available and regularly updated collection of genetic association studies performed on PD ...
    www.pdgene.org/meta.asp?geneID=72
  • 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] ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=PANK2&sec=1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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