TACC2 A1066T - 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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TACC2 A1066T

(TACC2 Ala1066Thr)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:10am 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 @ chr10:123845211: 18.8% (2022/10754) in EVS
  • A @ chr10:123835200: 18.5% (23/124) in GET-Evidence
  • Frequency shown in summary reports: 18.8% (2022/10754)

Publications
 

Genomes
 

Added in this revision:

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr10:123845211

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr10:123845211

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:123845211

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr10:123835201

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr10:123835201

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr10:123835201

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr10:123835201

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr10:123835201

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr10:123835201

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr10:123835201

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr10:123835201

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr10:123835201

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr10:123835201

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr10:123835201

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr10:123835201

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr10:123835201

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:123835201

 

Other external references
 

    dbSNP
  • rs11200387
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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