MKI67 E1403V - 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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MKI67 E1403V

(MKI67 Glu1403Val)


You are viewing an old version of this page that was saved on November 29, 2012 at 7:01am 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 @ chr10:129905896: 13.0% (1401/10758) in EVS
  • A @ chr10:129795885: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 13.0% (1401/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:129905896

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:129905896

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:129905896

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr10:129905896

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr10:129905896

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr10:129905896

 

Added in this revision:

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr10:129905896

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:129905896

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr10:129795886

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:129795886

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr10:129795886

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:129795886

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr10:129795886

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr10:129795886

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:129795886

 

Other external references
 

    dbSNP
  • rs3740423
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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