CUBN S2717W - 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:

(See the latest version)

CUBN S2717W

(CUBN Ser2717Trp)


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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

  • C @ chr10:16943371: 100.0% (10757/10758) in EVS
  • C @ chr10:16983376: 100.0% (128/128) in GET-Evidence
  • Frequency shown in summary reports: 100.0% (10757/10758)

Publications
 

Genomes
 

Added in this revision:

snp-1

 

Other external references
 

    Web search results (50 hits -- see all)
  • Type II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... (dbSNP:rs6445902) CUBN O60494 S2717W 2713 VAR_025296 PIKK ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type I- 99%
    rs28505970) CUBN O60494 S2717W 2717 VAR_025296 CAMKL (0.661) CK2 (0.890) Polymorphism (dbSNP:rs2796835) 9572993 TECTA O75443 Y1870C 1870 VAR_018976 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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