VANGL1 A116T - 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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VANGL1 A116T

(VANGL1 Ala116Thr)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:18am 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 @ chr1:116206423: 12.4% (1337/10758) in EVS
  • A @ chr1:116007945: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 12.4% (1337/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr1:116206423

 

Added in this revision:

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr1:116206423

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr1:116206423

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:116206423

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr1:116206423

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:116206423

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr1:116206423

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr1:116206423

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:116206423

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr1:116007946

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:116007946

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:116007946

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:116007946

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr1:116007946

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:116007946

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:116007946

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:116007946

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:116007946

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:116007946

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr1:116007946

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr1:116007946

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr1:116007946

 

Other external references
 

    dbSNP
  • rs4839469
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (2 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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