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!



(EVC Gln74Pro)

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 @ chr4:5721021: 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)



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

  • rs2291157
  • 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 ...
  • 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. ...
  • 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":

Log in