TOPORS S25W - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TOPORS S25W

(TOPORS Ser25Trp)


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 @ chr9:32550896: 0.6% (69/10716) in EVS
  • C @ chr9:32540895: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (69/10716)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr9:32550896

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr9:32540896

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr9:32540896

 

Other external references
 

    dbSNP
  • rs61758066
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (10 hits -- see all)
  • Retinitis Pigmentosa :: genetics
    BioInfoBank Library :: Retinitis Pigmentosa :: genetics :: Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? ...
    lib.bioinfo.pl/meid:7349
  • Mutations in the pre-mRNA splicing factor gene PRPC8 in ...
    Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? ... (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel ...
    lib.bioinfo.pl/pmid:11468273
  • Mutations in TOPORS: A Rare Cause of Autosomal Dominant ...
    Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exoni...
    prod.informaworld.com/smpp/content~content=a910511822

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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