COL15A1 A442T - GET-Evidence

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

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Curation:
Currentness:

COL15A1 A442T

(COL15A1 Ala442Thr)


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 @ chr9:101767303: 0.2% (24/10758) in EVS
  • A @ chr9:100807123: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 0.2% (24/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr9:101767303

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr9:101767303

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr9:100807124

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr9:100807124

 

Other external references
 

    dbSNP
  • rs16918128
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • COL15A1 Gene - GeneCards | COFA1 Protein | COFA1 Antibody
    EntrezGene summary for COL15A1: This gene encodes the alpha chain of ... COL15A1 Gene in genomic location: bands according to Ensembl, locations according to (and ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=COL15A1
  • Collagen alpha-1(XV) chain precursor - Homo sapiens (Human)
    COL15A1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 ...
    www.uniprot.org/uniprot/P39059
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16918128*A442T. rs16919049. rs16919417*C64X. rs16919452*ZFH4 NM_024721 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 1306
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=1306
  • UniProt: COFA1_HUMAN
    ... endostatin; DE Flags: Precursor; GN Name=COL15A1; OS Homo sapiens (Human). OC Eukaryota; ... RT chain of type XV collagen (COL15A1) and comparison with the homologous RT COL18A1 ...
    www.genome.jp/dbget-bin/www_bget?uniprot:COFA1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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