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Curation:

Currentness:

(See the latest version)

LMAN1 M410L

(LMAN1 Met410Leu)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

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

Added in this revision:

Other external references

dbSNP

rs2298711
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the LMAN1 gene
Factor V and Factor VIII, Combined Deficiency of
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LMAN1

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

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

LMAN1 M410L - GET-Evidence