CCDC116 R199W - 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:

CCDC116 R199W

(CCDC116 Arg199Trp)


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

  • T @ chr22:21988833: 7.3% (779/10744) in EVS
  • T @ chr22:20318832: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 7.3% (779/10744)

Publications
 

Genomes
 

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr22:20318833

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr22:20318833

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr22:20318833

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr22:20318833

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr22:20318833

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr22:20318833

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr22:20318833

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr22:20318833

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr22:20318833

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr22:20318833

 

Other external references
 

    dbSNP
  • rs12170285
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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