MUT I671V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

MUT I671V

(MUT Ile671Val)


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

  • C @ chr6:49403282: 60.8% (6536/10758) in EVS
  • C @ chr6:49511240: 53.7% (58/108) in GET-Evidence
  • Frequency shown in summary reports: 60.8% (6536/10758)

Publications
 

Genomes
 

hu04FD18

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr6:49403282

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr6:49403282

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr6:49403282

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr6:49403282

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr6:49403282

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr6:49511241

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr6:49511241

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr6:49511241

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr6:49511241

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr6:49511241

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr6:49511241

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr6:49511241

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr6:49511241

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr6:49511241

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr6:49511241

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr6:49511241

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr6:49511241

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr6:49511241

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr6:49511241

 

Added in this revision:

GS19025 - var-GS19025-1100-36-ASM
het C @ chr6:49511241

 

NA07022

 

NA12156

 

NA12878

 

NA18555

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-27

 

snp-29

 

snp-3

 

snp-31

 

snp-6

 

Other external references
 

    dbSNP
  • rs8589
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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