XCL2 H28D - GET-Evidence

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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:

(See the latest version)

XCL2 H28D

(XCL2 His28Asp)


You are viewing an old version of this page that was saved on March 5, 2012 at 11:56am 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

  • C @ chr1:168511325: 2.6% (271/10584) in EVS
  • C @ chr1:166777948: 29.4% (37/126) in GET-Evidence
  • Frequency shown in summary reports: 2.6% (271/10584)

Publications
 

Genomes
 

Added in this revision:

hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants
het C @ chr1:166777949

 

hu604D39

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr1:168511325

 

huAE6220

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr1:168511325

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr1:168511325

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr1:166777949

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr1:166777949

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr1:166777949

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:166777949

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:166777949

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr1:166777949

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr1:166777949

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr1:166777949

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr1:166777949

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:166777949

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr1:166777949

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr1:166777949

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:166777949

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr1:166777949

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr1:166777949

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr1:166777949

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:166777949

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:166777949

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:166777949

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:166777949

 

Other external references
 

    dbSNP
  • rs4301615
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (7 hits -- see all)
  • XCL2 Gene - GeneCards | XCL2 Protein | XCL2 Antibody
    Regulatory transcription factor binding sites in the XCL2 gene upstream (promoter) region ... XCL2 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2
  • AceView: Gene:XCL2, 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=XCL2
  • Cytokine SCM-1 beta precursor - Homo sapiens (Human)
    sp|Q9UBD3|XCL2_HUMAN Cytokine SCM-1 beta OS=Homo sapiens GN=XCL2 PE=1 SV=1 ... XCL2. Synonyms: SCYC2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/Q9UBD3
  • XCL2 Gene - GeneCards | XCL2 Protein | XCL2 Antibody
    Transcription factor binding sites upstream to the XCL2 gene ... XCL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or ...
    genecards.ims.u-tokyo.ac.jp/cgi-bin/carddisp.pl?gene=XCL2
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: XCL2 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=XCL2&geneid=6846
  • UniProt: XCL2_HUMAN
    AC Q9UBD3; DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot. DT ... Wikipedia; Note=XCL2 entry; CC URL="http://en.wikipedia.org/wiki/XCL2"; CC -CC ...
    www.genome.jp/dbget-bin/www_bget?uniprot:XCL2_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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