MST1P9 S152G - 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:

MST1P9 S152G

(MST1P9 Ser152Gly)


You are viewing the latest version of this page, saved on November 29, 2012 at 6:27am 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

  • None available.

Publications
 

Genomes
 

Added in this revision:

 

hu34D5B9 - hu34D5B9 exome
hom C @ chr1:17086870

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr1:17086870

 

 

 

Other external references
 

    dbSNP
  • rs114170948
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs2261727
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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