CARD8 V43Shift - 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:

CARD8 V43Shift

(CARD8 43delVinsShift)


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

  • TT @ chr19:53426832: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (4/128)

Publications
 

Genomes
 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het TT @ chr19:48735018

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het TT @ chr19:48735018

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het TT @ chr19:48735018

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het TT @ chr19:48735018

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het TT @ chr19:48735018

 

GS10851 - var-GS10851-1100-36-ASM
het TT @ chr19:53426833

 

GS18947 - var-GS18947-1100-36-ASM
het TT @ chr19:53426833

 

GS19649 - var-GS19649-1100-36-ASM
het TT @ chr19:53426833

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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