EMILIN1 elastin microfibril interfacer 1

Information
Symbol
EMILIN1
Type
protein-coding
Description
elastin microfibril interfacer 1
Entrez Gene ID
11117
Genome
hg19
Position
chr2:27,301,483-27,309,271
Genome
hg38
Position
chr2:27,078,615-27,086,403
MIM
130660 OMIM
HGNC
HGNC:19880 HGNC
Ensembl
ENSG00000138080 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Benign 0 24
Likely benign 0 20
Uncertain significance 0 152
Ranking
ClinVar
0
0
8
186
12
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 EMI
SYNONYM EMILIN
SYNONYM HMN10
SYNONYM HMND10
SYNONYM gp115
MIM 130660 OMIM
HGNC HGNC:19880 HGNC
Ensembl ENSG00000138080 Ensembl
AllianceGenome HGNC:19880
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380320.9 hg38 chr2 27,078,615 27,086,403 7,789
ENST00000380320.9 hg19 chr2 27,301,483 27,309,271 7,789
Genome browser