MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

Information
Symbol
MCFD2
Type
protein-coding
Description
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Entrez Gene ID
90411
Genome
hg19
Position
chr2:47,129,013-47,142,919
Genome
hg38
Position
chr2:46,901,874-46,915,780
MIM
607788 OMIM
HGNC
HGNC:18451 HGNC
Ensembl
ENSG00000180398 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 10
Benign 0 108
Likely benign 0 58
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 240
Ranking
ClinVar
0
0
16
400
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM F5F8D
SYNONYM F5F8D2
SYNONYM LMAN1IP
SYNONYM SDNSF
MIM 607788 OMIM
HGNC HGNC:18451 HGNC
Ensembl ENSG00000180398 Ensembl
AllianceGenome HGNC:18451
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409147.1 hg38 chr2 46,905,368 46,941,855 36,488
ENST00000409207.5 hg38 chr2 46,904,958 46,941,732 36,775
ENST00000319466.9 hg38 chr2 46,901,874 46,915,806 13,933
ENST00000649435.1 hg38 chr2 46,901,967 46,915,761 13,795
ENST00000409218.5 hg38 chr2 46,905,394 46,916,112 10,719
ENST00000409800.5 hg38 chr2 46,901,874 46,916,054 14,181
ENST00000409973.5 hg38 chr2 46,905,271 46,915,810 10,540
ENST00000409105.5 hg38 chr2 46,901,874 46,915,780 13,907
ENST00000444761.6 hg38 chr2 46,901,870 46,941,855 39,986
ENST00000409913.5 hg38 chr2 46,901,874 46,915,816 13,943
ENST00000409105.5 hg19 chr2 47,129,013 47,142,919 13,907
ENST00000319466.9 hg19 chr2 47,129,013 47,142,945 13,933
ENST00000409913.5 hg19 chr2 47,129,013 47,142,955 13,943
ENST00000409800.5 hg19 chr2 47,129,013 47,143,193 14,181
ENST00000409973.5 hg19 chr2 47,132,410 47,142,949 10,540
ENST00000409147.1 hg19 chr2 47,132,507 47,168,994 36,488
ENST00000409207.5 hg19 chr2 47,132,097 47,168,871 36,775
ENST00000409218.5 hg19 chr2 47,132,533 47,143,251 10,719
ENST00000444761.6 hg19 chr2 47,129,009 47,168,994 39,986
ENST00000649435.1 hg19 chr2 47,129,106 47,142,900 13,795
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