MAGEB6 G155A - 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:

MAGEB6 G155A

(MAGEB6 Gly155Ala)


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

  • C @ chrX:26212427: 4.8% (421/8759) in EVS
  • C @ chrX:26122347: 7.8% (7/90) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (421/8759)

Publications
 

Genomes
 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chrX:26122348

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chrX:26122348

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chrX:26122348

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chrX:26122348

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chrX:26122348

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chrX:26122348

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chrX:26122348

 

Other external references
 

    dbSNP
  • rs73499811
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.019 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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