EGF Q1136Shift - 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:

EGF Q1136Shift

(EGF 1136delQinsShift)


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

  • C @ chr4:111151842: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (6/128)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr4:110932390

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr4:110932390

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr4:111151843

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr4:111151843

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr4:111151843

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr4:111151843

 

Other external references
 

    dbSNP
  • rs11569144
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs79786166
    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