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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(ELN Gly422Ser)

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

  • 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)





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

  • rs2071307
    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 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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