LMAN1 R14Q - 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)

LMAN1 R14Q

(LMAN1 Arg14Gln)


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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

  • T @ chr18:57026436: 3.8% (410/10758) in EVS
  • T @ chr18:55177415: 1.7% (2/116) in GET-Evidence
  • Frequency shown in summary reports: 3.8% (410/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr18:57026436

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr18:55177416

 

snp-6

 

Deleted in this revision:

snp-6

 

Other external references
 

    dbSNP
  • rs1043302
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.058 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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