LMAN1 M410L - 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:

LMAN1 M410L

(LMAN1 Met410Leu)


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 @ chr18:57000469: 10.2% (1093/10758) in EVS
  • A @ chr18:55151448: 8.7% (11/126) in GET-Evidence
  • Frequency shown in summary reports: 10.2% (1093/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr18:57000469

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr18:57000469

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr18:57000469

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr18:57000469

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr18:57000469

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr18:57000469

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr18:55151449

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr18:55151449

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr18:55151449

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr18:55151449

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr18:55151449

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr18:55151449

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr18:55151449

 

Other external references
 

    dbSNP
  • rs2298711
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.025 (benign)
    Web search results (3 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Blood -- Molecular Analysis of the ERGIC-53 Gene in 35 ...
    ... and A13: heterozygous for R14Q and M410L). Secondly, affected individuals from another ... factor VIII is due to mutations in either LMAN1 or MCFD2. Blood, March 1, 2006; 107(5) ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../2253
  • Type III 95%
    ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ... Polymorphism (dbSNP:rs7197352) LMAN1 P49257 M410L 411 VAR_013705 IKK ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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