COL15A1 P705L - 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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Curation:
Currentness:

COL15A1 P705L

(COL15A1 Pro705Leu)


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

  • T @ chr9:101797330: 1.5% (157/10758) in EVS
  • T @ chr9:100837150: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (157/10758)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr9:101797330

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr9:101797330

 

Other external references
 

    dbSNP
  • rs41308900
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (2 hits -- see all)
  • 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
  • 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 = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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