LEPROTL1 M94I - 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:

LEPROTL1 M94I

(LEPROTL1 Met94Ile)


You are viewing the latest version of this page, saved on June 22, 2011 at 11:48pm 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 @ chr8:29994790: 1.4% (46/3234) in EVS
  • A @ chr8:30114331: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.4% (46/3234)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr8:29994790

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr8:30114332

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr8:30114332

 

snp-30

 

Deleted in this revision:

snp-30

 

Other external references
 

    dbSNP
  • rs74960438
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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