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.

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Curation:
Currentness:

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EVC Y258H

(EVC Tyr258His)


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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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr4:5743512

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr4:5743512

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr4:5743512

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr4:5743512

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr4:5743512

 

 

 

Added in this revision:

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr4:5743512

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr4:5743512

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr4:5743512

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr4:5743512

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr4:5743512

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr4:5794413

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr4:5794413

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr4:5794413

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr4:5794413

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr4:5794413

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr4:5794413

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr4:5794413

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr4:5794413

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr4:5794413

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr4:5794413

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr4:5794413

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr4:5794413

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr4:5794413

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr4:5794413

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr4:5794413

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr4:5794413

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr4:5794413

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr4:5794413

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr4:5794413

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr4:5794413

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr4:5794413

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr4:5794413

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr4:5794413

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr4:5794413

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr4:5794413

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr4:5794413

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr4:5794413

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr4:5794413

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr4:5794413

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr4:5794413

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr4:5794413

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr4:5794413

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr4:5794413

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr4:5794413

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr4:5794413

 

Other external references
 

    dbSNP
  • rs6414624
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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":

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