C20ORF54 T278M - 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:

C20ORF54 T278M

(C20ORF54 Thr278Met)


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 @ chr20:744382: 9.9% (1062/10758) in EVS
  • A @ chr20:692381: 4.9% (6/122) in GET-Evidence
  • Frequency shown in summary reports: 9.9% (1062/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr20:692382

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr20:692382

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr20:692382

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr20:692382

 

Other external references
 

    dbSNP
  • rs3746803
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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