MAGEA3 W80A - 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:

MAGEA3 W80A

(MAGEA3 Trp80Ala)


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

  • None available.

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GCT @ chrX:151935928

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GCT @ chrX:151935928

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het GCT @ chrX:151935928

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GCT @ chrX:151935928

 

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in