EMC6 ER membrane protein complex subunit 6

Information
Symbol
EMC6
Type
protein-coding
Description
ER membrane protein complex subunit 6
Entrez Gene ID
83460
Genome
hg19
Position
chr17:3,572,116-3,572,962
Genome
hg38
Position
chr17:3,668,822-3,669,668
MIM
620261 OMIM
HGNC
HGNC:28430 HGNC
Ensembl
ENSG00000127774 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
6
0
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 :
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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 RAB5IFL
SYNONYM TMEM93
MIM 620261 OMIM
HGNC HGNC:28430 HGNC
Ensembl ENSG00000127774 Ensembl
AllianceGenome HGNC:28430
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397133.2 hg38 chr17 3,668,822 3,669,668 847
ENST00000248378.6 hg38 chr17 3,668,812 3,669,665 854
ENST00000248378.6 hg19 chr17 3,572,106 3,572,959 854
ENST00000397133.2 hg19 chr17 3,572,116 3,572,962 847
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