DAGLB Q664R - 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)

DAGLB Q664R

(DAGLB Gln664Arg)


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 @ chr7:6449496: 17.4% (1871/10758) in EVS
  • C @ chr7:6416020: 14.3% (18/126) in GET-Evidence
  • Frequency shown in summary reports: 17.4% (1871/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr7:6449496

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr7:6449496

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr7:6449496

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr7:6416021

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr7:6416021

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr7:6416021

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr7:6416021

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr7:6416021

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr7:6416021

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr7:6416021

 

Added in this revision:

GS19670 - var-GS19670-1100-36-ASM
het C @ chr7:6416021

 

NA07022

 

NA12156

 

NA12878

 

NA18517

 

NA18555

 

snp-1

 

snp-18

 

snp-2

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs2303361
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.293 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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