CEP152 S54L - 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:

CEP152 S54L

(CEP152 Ser54Leu)


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

  • A @ chr15:49090175: 0.8% (77/10178) in EVS
  • A @ chr15:46877466: 5.6% (7/126) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (77/10178)

Publications
 

Genomes
 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr15:49090175

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr15:46877467

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr15:46877467

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr15:46877467

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr15:46877467

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr15:46877467

 

Other external references
 

    dbSNP
  • rs2289181
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in