MTMR2 K3T - GET-Evidence

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

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Curation:
Currentness:

MTMR2 K3T

(MTMR2 Lys3Thr)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am 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

  • G @ chr11:95657111: 24.0% (2499/10404) in EVS
  • G @ chr11:95296758: 3.1% (2/64) in GET-Evidence
  • Frequency shown in summary reports: 24.0% (2499/10404)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr11:95657111

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr11:95657111

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr11:95657111

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr11:95657111

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr11:95657111

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chr11:95657111

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr11:95657111

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr11:95657111

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr11:95657111

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr11:95657111

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr11:95657111

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr11:95657111

 

Added in this revision:

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr11:95657111

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr11:95296759

 

Other external references
 

    dbSNP
  • rs3824874
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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