CETP R468Q - 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:

CETP R468Q

(CETP Arg468Gln)


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 @ chr16:57017319: 2.9% (308/10758) in EVS
  • A @ chr16:55574819: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (308/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr16:57017319

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr16:57017319

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr16:57017319

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr16:55574820

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr16:55574820

 

Other external references
 

    dbSNP
  • rs1800777
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.009 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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