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:

PLA2G4E C5R

(PLA2G4E Cys5Arg)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr15:42302433

 

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

 

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

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr15:42302433

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr15:42302433

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr15:42302433

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr15:42302433

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chr15:42302433

 

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

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr15:42302433

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr15:42302433

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom G @ chr15:42302433

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom 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

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom G @ chr15:42302433

 

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

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het 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":

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