GGN Q647X - 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!

Curation:
Currentness:

(See the latest version)

GGN Q647X

(GGN Gln647Stop)


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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

  • A @ chr19:38875072: 0.9% (94/10758) in EVS
  • A @ chr19:43566911: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (94/10758)

Publications
 

Genomes
 

Added in this revision:

GS10851 - var-GS10851-1100-36-ASM
het A @ chr19:43566912

 

snp-18

 

Other external references
 

    dbSNP
  • rs62123481
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • GGN Gene - GeneCards | GGN Protein | GGN Antibody
    EntrezGene summary for GGN: This gene is a germ cell-specific gene ... GGN Gene in genomic location: bands according to Ensembl, locations according to ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GGN

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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