AX746964 K166I - 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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AX746964 K166I

(AX746964 Lys166Ile)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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 @ chr5:140222662: 62.8% (54/86) in GET-Evidence
  • Frequency shown in summary reports: 62.8% (54/86)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr5:140242479

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr5:140242479

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr5:140242479

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr5:140242479

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr5:140242479

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr5:140242479

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr5:140222663

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr5:140222663

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr5:140222663

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr5:140222663

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr5:140222663

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr5:140222663

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr5:140222663

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr5:140222663

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr5:140222663

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr5:140222663

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr5:140222663

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr5:140222663

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr5:140222663

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr5:140222663

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr5:140222663

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr5:140222663

 

Added in this revision:

GS19735 - var-GS19735-1100-36-ASM
het A @ chr5:140222663

 

Other external references
 

    dbSNP
  • rs251369
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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