MAGEA3 L175V - 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 L175V

(MAGEA3 Leu175Val)


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
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chrX:151935644

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chrX:151935644

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chrX:151935644

 

Other external references
 

    dbSNP
  • rs35845634
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in