MAGEC1 S241F - 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:

MAGEC1 S241F

(MAGEC1 Ser241Phe)


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

  • T @ chrX:140993912: 20.5% (1779/8660) in EVS
  • Frequency shown in summary reports: 20.5% (1779/8660)

Publications
 

Genomes
 

hu34D5B9 - hu34D5B9 exome
het T @ chrX:140993912

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chrX:140993912

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chrX:140821578

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chrX:140821578

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chrX:140821578

 

NA12878

 

Other external references
 

    dbSNP
  • rs12558365
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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