MAGEA12 E57D - 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:

MAGEA12 E57D

(MAGEA12 Glu57Asp)


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

  • G @ chrX:151900630: 3.4% (301/8761) in EVS
  • G @ chrX:151651285: 4.3% (4/92) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (301/8761)

Publications
 

Genomes
 

GS18502 - var-GS18502-1100-36-ASM
het G @ chrX:151651286

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chrX:151651286

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chrX:151651286

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chrX:151651286

 

Other external references
 

    dbSNP
  • rs16996512
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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