CASP10 L522I - 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!

Curation:
Currentness:

(See the latest version)

CASP10 L522I

(CASP10 Leu522Ile)


You are viewing an old version of this page that was saved on February 27, 2010 at 9:24pm by Genome Importing Robot.

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 @ chr2:202082459: 43.9% (4721/10758) in EVS
  • Frequency shown in summary reports: 43.9% (4721/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr2:202082459

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA19129

 

NA19240

 

snp-18

 

Added in this revision:

snp-27

 

snp-3

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs13006529
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CASP10 gene
    Autoimmune Lymphoproliferative Syndrome
    CASP10-Related Autoimmune Lymphoproliferative Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASP10
    Web search results (3 hits -- see all)
  • AceView: Gene:CASP10, a comprehensive annotation of human ...
    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=CASP10
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in