AIM1 C491R - 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)

AIM1 C491R

(AIM1 Cys491Arg)


You are viewing an old version of this page that was saved on June 22, 2011 at 10:24am 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 @ chr6:106967778: 21.8% (2344/10758) in EVS
  • C @ chr6:107074470: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 21.8% (2344/10758)

Publications
 

Genomes
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr6:106967778

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr6:106967778

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr6:106967778

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr6:107074471

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr6:107074471

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr6:107074471

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr6:107074471

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr6:107074471

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr6:107074471

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr6:107074471

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr6:107074471

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr6:107074471

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr6:107074471

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr6:107074471

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr6:107074471

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr6:107074471

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr6:107074471

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr6:107074471

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA19240

 

snp-1

 

Deleted in this revision:

snp-1

 

snp-3

 

snp-30

 

snp-5

 

Other external references
 

    dbSNP
  • rs3747787
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.091 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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