PLA2G4E C5R - 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)

PLA2G4E C5R

(PLA2G4E Cys5Arg)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:32am 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

  • G @ chr15:42302433: 35.6% (3448/9690) in EVS
  • G @ chr15:40089724: 32.2% (38/118) in GET-Evidence
  • Frequency shown in summary reports: 35.6% (3448/9690)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr15:42302433

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr15:42302433

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr15:42302433

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom G @ chr15:42302433

 

Added in this revision:

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr15:42302433

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr15:42302433

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr15:42302433

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr15:42302433

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr15:42302433

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr15:42302433

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr15:40089725

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr15:40089725

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr15:40089725

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr15:40089725

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr15:40089725

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr15:40089725

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr15:40089725

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr15:40089725

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr15:40089725

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr15:40089725

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr15:40089725

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr15:40089725

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr15:40089725

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr15:40089725

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr15:40089725

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr15:40089725

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr15:40089725

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr15:40089725

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr15:40089725

 

Other external references
 

    dbSNP
  • rs9920802
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in