EVC Y258H - 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)

EVC Y258H

(EVC Tyr258His)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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 @ chr4:5743512: 70.6% (7586/10746) in EVS
  • C @ chr4:5794412: 76.6% (98/128) in GET-Evidence
  • Frequency shown in summary reports: 70.6% (7586/10746)

Publications
 

Genomes
 

NA12878

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

Added in this revision:

NA19240

 

snp-1

 

snp-2

 

Other external references
 

    PolyPhen-2
  • Score: 0.985 (probably damaging)
    Web search results (7 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
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in