EMC10 ER membrane protein complex subunit 10

Information
Symbol
EMC10
Type
protein-coding
Description
ER membrane protein complex subunit 10
Entrez Gene ID
284361
Genome
hg19
Position
chr19:50,979,764-50,994,128
Genome
hg38
Position
chr19:50,476,507-50,490,871
MIM
614545 OMIM
HGNC
HGNC:27609 HGNC
Ensembl
ENSG00000161671 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 16
Likely pathogenic 0 6
Benign 0 4
Likely benign 0 30
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 38
Ranking
ClinVar
0
0
6
72
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
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 C19orf63
SYNONYM HSM1
SYNONYM HSS1
SYNONYM NEDDFAS
MIM 614545 OMIM
HGNC HGNC:27609 HGNC
Ensembl ENSG00000161671 Ensembl
AllianceGenome HGNC:27609
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000334976.11 hg38 chr19 50,476,507 50,490,871 14,365
ENST00000376918.7 hg38 chr19 50,476,499 50,483,351 6,853
ENST00000598585.1 hg38 chr19 50,476,521 50,483,198 6,678
ENST00000376918.7 hg19 chr19 50,979,756 50,986,608 6,853
ENST00000334976.11 hg19 chr19 50,979,764 50,994,128 14,365
ENST00000598585.1 hg19 chr19 50,979,778 50,986,455 6,678
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