PRDM15 V266L - 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:

PRDM15 V266L

(PRDM15 Val266Leu)


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 @ chr21:43281767: 6.3% (673/10758) in EVS
  • A @ chr21:42154835: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 6.3% (673/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr21:43281767

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr21:43281767

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr21:43281767

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr21:43281767

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr21:42154836

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr21:42154836

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr21:42154836

 

Other external references
 

    dbSNP
  • rs62621406
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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