CACNA2D1 A924Shift - 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.

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Curation:
Currentness:

CACNA2D1 A924Shift

(CACNA2D1 924delAinsShift)


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

  • AC @ chr7:81431314: 0.9% (1/106) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (1/106)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het AC @ chr7:81593379

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het AC @ chr7:81593379

 

GS18956 - var-GS18956-1100-36-ASM
het AC @ chr7:81431315

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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