PLA2G4D R807Q - 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:

(See the latest version)

PLA2G4D R807Q

(PLA2G4D Arg807Gln)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:01am by Genome Importing Robot.

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

  • T @ chr15:42360950: 8.9% (960/10758) in EVS
  • T @ chr15:40148241: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 8.9% (960/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr15:42360950

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr15:42360950

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr15:42360950

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr15:40148242

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr15:40148242

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr15:40148242

 

NA07022

 

Deleted in this revision:

NA07022

 

Other external references
 

    dbSNP
  • rs750051
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.976 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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