MIA3 MIA SH3 domain ER export factor 3

Information
Symbol
MIA3
Type
protein-coding
Description
MIA SH3 domain ER export factor 3
Entrez Gene ID
375056
Genome
hg19
Position
chr1:222,791,439-222,841,349
Genome
hg38
Position
chr1:222,618,097-222,668,007
MIM
613455 OMIM
HGNC
HGNC:24008 HGNC
Ensembl
ENSG00000154305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 4
Likely benign 0 26
Uncertain significance 0 212
Ranking
ClinVar
0
0
2
240
2
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 ARNT
SYNONYM D320
SYNONYM ODCD2
SYNONYM TANGO
SYNONYM TANGO1
SYNONYM UNQ6077
MIM 613455 OMIM
HGNC HGNC:24008 HGNC
Ensembl ENSG00000154305 Ensembl
AllianceGenome HGNC:24008
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340535.11 hg38 chr1 222,644,303 222,665,823 21,521
ENST00000344922.10 hg38 chr1 222,618,097 222,668,007 49,911
ENST00000344922.10 hg19 chr1 222,791,439 222,841,349 49,911
ENST00000340535.11 hg19 chr1 222,817,645 222,839,165 21,521
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