COG7 T605M - 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:

COG7 T605M

(COG7 Thr605Met)


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 @ chr16:23409440: 7.2% (777/10758) in EVS
  • A @ chr16:23316940: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 7.2% (777/10758)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr16:23409440

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr16:23409440

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:23409440

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr16:23316941

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr16:23316941

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr16:23316941

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr16:23316941

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr16:23316941

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr16:23316941

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr16:23316941

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr16:23316941

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr16:23316941

 

Other external references
 

    dbSNP
  • rs16940094
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.346 (possibly damaging)
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16940094*COG7 NM_153603 NP_705831*T605M'component of oligomeric golgi complex 7 ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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