EFEMP2 EGF containing fibulin extracellular matrix protein 2

Information
Symbol
EFEMP2
Type
protein-coding
Description
EGF containing fibulin extracellular matrix protein 2
Entrez Gene ID
30008
Genome
hg19
Position
chr11:65,633,912-65,640,271
Genome
hg38
Position
chr11:65,866,441-65,872,800
MIM
604633 OMIM
HGNC
HGNC:3219 HGNC
Ensembl
ENSG00000172638 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 30
Benign 0 48
Likely benign 0 388
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 434
Ranking
ClinVar
0
0
254
646
14
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 :
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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 ARCL1B
SYNONYM FBLN4
SYNONYM MBP1
SYNONYM UPH1
MIM 604633 OMIM
HGNC HGNC:3219 HGNC
Ensembl ENSG00000172638 Ensembl
AllianceGenome HGNC:3219
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000307998.11 hg38 chr11 65,866,441 65,872,800 6,360
ENST00000528176.5 hg38 chr11 65,866,447 65,872,743 6,297
ENST00000307998.11 hg19 chr11 65,633,912 65,640,271 6,360
ENST00000528176.5 hg19 chr11 65,633,918 65,640,214 6,297
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