CASP8AP2 TSLPRHG1567H - 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:

CASP8AP2 TSLPRHG1567H

(CASP8AP2 1567_1573delTSLPRHGinsH)


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

  • ACAT @ chr6:90634427: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 12.5% (16/128)

Publications
 

Genomes
 

hu0D879F

 

hu43860C

 

 

huAE6220

 

huBEDA0B

 

huE80E3D

 

GS06985 - var-GS06985-1100-36-ASM
hom ACAT @ chr6:90634428

 

GS19649 - var-GS19649-1100-36-ASM
hom ACAT @ chr6:90634428

 

GS19670 - var-GS19670-1100-36-ASM
het ACAT @ chr6:90634428

 

GS20502 - var-GS20502-1100-36-ASM
het ACAT @ chr6:90634428

 

GS20509 - var-GS20509-1100-36-ASM
het ACAT @ chr6:90634428

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in