NM_001080826 P567L - 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.

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Curation:
Currentness:

(See the latest version)

NM_001080826 P567L

(NM_001080826 Pro567Leu)


You are viewing an old version of this page that was saved on March 29, 2011 at 4:14am 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 @ chr8:8234219: 29.0% (2923/10068) in EVS
  • TA @ chr8:8271627: 43.8% (56/128) in GET-Evidence
  • Frequency shown in summary reports: 29.0% (2923/10068)

Publications
 

Genomes
 

Added in this revision:

huC30901 - CGI sample GS00253-DNA_B01_200_37
het TA @ chr8:8234218

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het TA @ chr8:8234218

 

Other external references
 

    dbSNP
  • rs4840954
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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