COL18A1 A288T - GET-Evidence

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

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Curation:
Currentness:

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COL18A1 A288T

(COL18A1 Ala288Thr)


You are viewing an old version of this page that was saved on November 29, 2012 at 7:28am 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 @ chr21:46876306: 25.0% (809/3234) in EVS
  • Frequency shown in summary reports: 25.0% (809/3234)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr21:46876306

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr21:46876306

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr21:46876306

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr21:46876306

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr21:46876306

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr21:46876306

 

Added in this revision:

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom A @ chr21:46876306

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr21:46876306

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr21:46876306

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr21:46876306

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr21:46876306

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr21:46876306

 

Other external references
 

    dbSNP
  • rs11702494
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.017 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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