XCL2 H28D - 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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(XCL2 His28Asp)

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

  • 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)




hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr1:168511325


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:168511325




hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr1:168511325


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




huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:168511325


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

  • rs4301615
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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