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:

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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
 

 

Added in this revision:

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr18:57026436

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr18:57026436

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr18:57026436

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr18:57026436

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr18:57026436

 

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

 

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

 

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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