DEFB126 Q55Shift - 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:

DEFB126 Q55Shift

(DEFB126 55delQinsShift)


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

  • - @ chr20:74155: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (2/128)

Publications
 

Genomes
 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het - @ chr20:126156

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het - @ chr20:126156

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het - @ chr20:126156

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het - @ chr20:126156

 

 

GS12004 - var-GS12004-1100-36-ASM
het - @ chr20:74160

 

GS18502 - var-GS18502-1100-36-ASM
het - @ chr20:74160

 

GS18504 - var-GS18504-1100-36-ASM
het - @ chr20:74160

 

GS18505 - var-GS18505-1100-36-ASM
het - @ chr20:74160

 

GS18508 - var-GS18508-1100-36-ASM
het - @ chr20:74160

 

GS18517 - var-GS18517-1100-36-ASM
hom - @ chr20:74160

 

GS19017 - var-GS19017-1100-36-ASM
hom - @ chr20:74160

 

GS19020 - var-GS19020-1100-36-ASM
het - @ chr20:74160

 

GS19025 - var-GS19025-1100-36-ASM
het - @ chr20:74160

 

GS19026 - var-GS19026-1100-36-ASM
het - @ chr20:74156

 

GS19129 - var-GS19129-1100-36-ASM
het - @ chr20:74160

 

GS19238 - var-GS19238-1100-36-ASM
het - @ chr20:74160

 

GS19239 - var-GS19239-1100-36-ASM
het - @ chr20:74160

 

GS19240 - var-GS19240-1100-36-ASM
het - @ chr20:74156

 

GS19700 - var-GS19700-1100-36-ASM
hom - @ chr20:74160

 

GS19703 - var-GS19703-1100-36-ASM
hom - @ chr20:74160

 

GS19704 - var-GS19704-1100-36-ASM
het - @ chr20:74160

 

Other external references
 

    dbSNP
  • rs11467497
    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":

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