CCDC116 R96C - 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 R96C

(CCDC116 Arg96Cys)


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 @ chr22:21988524: 16.1% (1730/10758) in EVS
  • T @ chr22:20318523: 15.6% (20/128) in GET-Evidence
  • Frequency shown in summary reports: 16.1% (1730/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr22:21988524

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr22:21988524

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr22:21988524

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr22:21988524

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr22:21988524

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr22:21988524

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr22:21988524

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr22:21988524

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr22:20318524

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr22:20318524

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr22:20318524

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr22:20318524

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr22:20318524

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr22:20318524

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr22:20318524

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr22:20318524

 

Other external references
 

    dbSNP
  • rs861854
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.075 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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