PLA2G4E G36Shift - 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:

PLA2G4E G36Shift

(PLA2G4E 36delGinsShift)


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

  • CCCCCCCG @ chr15:40089629: 1.2% (1/80) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (1/80)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het CCCCG @ chr15:42302341

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het CCCCCCG @ chr15:42302341

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CCCCCCG @ chr15:42302341

 

GS19020 - var-GS19020-1100-36-ASM
het CCCCCCCG @ chr15:40089630

 

Other external references
 

    dbSNP
  • rs28736629
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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