UNC5C A841T - GET-Evidence

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

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Curation:
Currentness:

UNC5C A841T

(UNC5C Ala841Thr)


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 @ chr4:96091414: 1.5% (166/10758) in EVS
  • T @ chr4:96310436: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (166/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr4:96091414

 

 

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr4:96310437

 

Other external references
 

    dbSNP
  • rs34585936
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)
  • UNC5C Gene - GeneCards | UNC5C Protein | UNC5C Antibody
    UNC5C Gene in genomic location: bands according to Ensembl, locations according ... Sigma-Aldrich Antibodies for UNC5C. R&D Systems Antibodies for UNC5C (UNC5H3) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5C
  • Netrin receptor UNC5C precursor - Homo sapiens (Human)
    Sequence >sp|O95185|UNC5C_HUMAN Netrin receptor UNC5C OS=Homo sapiens GN=UNC5C PE=2 SV=2 MRKGLRATAARCGLGLGYLLQMLVLPALALLSASGTGSAAQDDDFFHELPETFPSDPPEP ...
    www.uniprot.org/uniprot/O95185
  • Online Supplement A Polymorphism in the Protease-like Domain ...
    Cardiovascular Research Institute, UCSF, 513 Parnassus Ave, San ... rs34585936 UNC5C. 0.0392. rs3734729 PPP1R14C. 0.0361. rs1323717 USP45. 0.0153. rs34473884 ...
    atvb.ahajournals.org/cgi/data/ATVBAHA.107.141291/DC1/1
  • DOI: 10.1161/ATVBAHA.107.141291 published online Jun 14, 2007 ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American ... rs34585936 UNC5C. 0.0392. rs3734729 PPP1R14C. 0.0361. rs1323717 USP45. 0. ...
    atvb.ahajournals.org/cgi/reprint/ATVBAHA.107.141291v1.pdf
  • UniProt: UNC5C_HUMAN
    ... version 83. DE RecName: Full=Netrin receptor UNC5C; DE AltName: Full=Protein ... "Cloning and mapping of the UNC5C gene to human chromosome 4q21-q23. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:UNC5C_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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