CASP10 L522I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

(See the latest version)

CASP10 L522I

(CASP10 Leu522Ile)


You are viewing an old version of this page that was saved on November 29, 2012 at 7:01am 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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr2:202082459

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr2:202082459

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr2:202082459

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr2:202082459

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr2:202082459

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr2:202082459

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr2:202082459

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr2:202082459

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr2:202082459

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chr2:202082459

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr2:202082459

 

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

 

Added in this revision:

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chr2:202082459

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr2:202082459

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr2:202082459

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr2:202082459

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr2:202082459

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr2:202082459

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr2:202082459

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr2:202082459

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr2:202082459

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chr2:202082459

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr2:202082459

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr2:202082459

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr2:202082459

 

NA12878

 

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":

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