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!


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(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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Added in this revision:



Other external references

  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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