EVC Q74P - 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:

EVC Q74P

(EVC Gln74Pro)


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 @ chr4:5721021: 7.8% (842/10758) in EVS
  • C @ chr4:5771921: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 7.8% (842/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr4:5721021

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr4:5721021

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr4:5721021

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr4:5721021

 

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr4:5771922

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr4:5771922

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr4:5771922

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr4:5771922

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr4:5771922

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr4:5771922

 

Other external references
 

    dbSNP
  • rs2291157
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.985 (probably damaging)
    Web search results (6 hits -- see all)
  • AceView: Gene:EVC, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=EVC
  • Everything you always wanted to know about genetic maps ...
    Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal. recessive skeletal dysplasia ... that EvC and Weyers acrodental dysostosis are allelic conditions. ...
    genome.gov/Pages/.../CourseHandouts/CTGA2005Lec11.grey.pdf
  • Infiammazione (.pps)
    ú*¥ÇÄ<håâ3*GgMsGsà¡YB6ƒæd±ñüzzà0fë¼*!RñÖ·φuµ *j'ùY ... WFxuaq74P]~Φ-v7[n÷è*5[ès*c]p**VBw*FƒÅ&**é=a*É*"ΦcéæτÜαáNögTO ...
    med.unipg.it/ccl/Diapositive PAT GEN2 PROTETTI/...

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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