BC112980 K147Shift - 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:

BC112980 K147Shift

(BC112980 147delKinsShift)


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
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het - @ chrX:47695743

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom - @ chrX:47695743

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom - @ chrX:47695743

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom - @ chrX:47695743

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom - @ chrX:47695743

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom - @ chrX:47695743

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het - @ chrX:47695743

 

 

 

 

Other external references
 

    dbSNP
  • rs35084954
    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