CXORF59 R424Shift - 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:

CXORF59 R424Shift

(CXORF59 424delRinsShift)


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
 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom TG @ chrX:36162685

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom TG @ chrX:36162685

 

GS18501 - var-GS18501-1100-36-ASM
hom TG @ chrX:36072608

 

GS18502 - var-GS18502-1100-36-ASM
hom TG @ chrX:36072606

 

GS18504 - var-GS18504-1100-36-ASM
hom TG @ chrX:36072606

 

GS18505 - var-GS18505-1100-36-ASM
het TG @ chrX:36072608

 

GS18508 - var-GS18508-1100-36-ASM
hom TG @ chrX:36072606

 

GS18517 - var-GS18517-1100-36-ASM
het TG @ chrX:36072608

 

GS18555 - var-GS18555-1100-36-ASM
het TG @ chrX:36072608

 

GS18942 - var-GS18942-1100-36-ASM
het TG @ chrX:36072608

 

GS19017 - var-GS19017-1100-36-ASM
het TG @ chrX:36072608

 

GS19025 - var-GS19025-1100-36-ASM
hom TG @ chrX:36072606

 

GS19026 - var-GS19026-1100-36-ASM
hom TG @ chrX:36072608

 

GS19129 - var-GS19129-1100-36-ASM
het TG @ chrX:36072606

 

GS19238 - var-GS19238-1100-36-ASM
het TG @ chrX:36072608

 

GS19239 - var-GS19239-1100-36-ASM
hom TG @ chrX:36072608

 

GS19240 - var-GS19240-1100-36-ASM
hom TG @ chrX:36072608

 

GS19700 - var-GS19700-1100-36-ASM
hom TG @ chrX:36072606

 

GS19701 - var-GS19701-1100-36-ASM
hom TG @ chrX:36072608

 

GS19703 - var-GS19703-1100-36-ASM
hom TG @ chrX:36072608

 

GS19704 - var-GS19704-1100-36-ASM
het TG @ chrX:36072608

 

GS19834 - var-GS19834-1100-36-ASM
hom TG @ chrX:36072606

 

GS21767 - var-GS21767-1100-36-ASM
hom TG @ chrX:36072606

 

Other external references
 

    dbSNP
  • rs72358588
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs67422853
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs112700338
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in