EPDR1 A36Shift - 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:

EPDR1 A36Shift

(EPDR1 36delAinsShift)


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

  • - @ chr7:37926787: 1.2% (1/84) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (1/84)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

GS18501 - var-GS18501-1100-36-ASM
het - @ chr7:37926788

 

GS18558 - var-GS18558-1100-36-ASM
het - @ chr7:37926811

 

Other external references
 

    dbSNP
  • rs76859517
    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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