TACC2 A1066T - 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:

TACC2 A1066T

(TACC2 Ala1066Thr)


You are viewing the latest version of this page, saved on November 29, 2012 at 5:31am 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
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr10:123845211

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:123845211

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr10:123845211

 

Added in this revision:

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr10:123845211

 

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

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr10:123845211

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr10:123845211

 

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

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het 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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