ELN G422S - 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:

ELN G422S

(ELN Gly422Ser)


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

  • A @ chr7:73470714: 33.2% (3570/10758) in EVS
  • A @ chr7:73108649: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 33.2% (3570/10758)

Publications
 

Genomes
 

 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr7:73470714

 

 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr7:73470714

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr7:73470714

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr7:73470714

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr7:73470714

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr7:73470714

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr7:73108650

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr7:73108650

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr7:73108650

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr7:73108650

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr7:73108650

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr7:73108650

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr7:73108650

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr7:73108650

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr7:73108650

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr7:73108650

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr7:73108650

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr7:73108650

 

Other external references
 

    dbSNP
  • rs2071307
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • SNPs Identified in ELN
    G422S. G/A. WIPGA_03_820. chr7:72882879. Intronic. view. C/T. WIPGA_03_821. chr7:72884147 ... Candidate Gene List > ELN Main Page > SNPs Identified in ELN ...
    cardiogenomics.med.harvard.edu/.../ELN_validated_SNPs.html
  • AceView: Gene:ELN, 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=ELN
  • SNPs Identified in ELN
    Project 5 > SNP Discovery and Genotyping > Candidate Gene List > ELN Main Page > SNPs Identified in ELN ... G422S. G/A. WIPGA_03_820. chr7:72882879. Intronic. view. C/T ...
    cardiogenomics.med.harvard.edu/.../ELN_validated_SNPs.html
  • Genomewide-Linkage and Haplotype-Association Studies Map ...
    Since ELN is both a positional and functional candidate gene for IA, ... length of ELN, and the contig was extended to marker D7S2472, telomeric to ELN. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1226066

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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