MIA MIA SH3 domain containing

Information
Symbol
MIA
Type
protein-coding
Description
MIA SH3 domain containing
Entrez Gene ID
8190
Genome
hg19
Position
chr19:41,281,082-41,283,395
Genome
hg38
Position
chr19:40,775,177-40,777,490
MIM
601340 OMIM
HGNC
HGNC:7076 HGNC
Ensembl
ENSG00000261857 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 2 0
Benign 0 2
Likely benign 0 6
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
22
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
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 CD-RAP
SYNONYM MIA1
MIM 601340 OMIM
HGNC HGNC:7076 HGNC
Ensembl ENSG00000261857 Ensembl
AllianceGenome HGNC:7076
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000597784.5 hg38 chr19 40,775,264 40,777,427 2,164
ENST00000263369.4 hg38 chr19 40,775,521 40,777,490 1,970
ENST00000594436.5 hg38 chr19 40,775,177 40,777,490 2,314
ENST00000594436.5 hg19 chr19 41,281,082 41,283,395 2,314
ENST00000597784.5 hg19 chr19 41,281,169 41,283,332 2,164
ENST00000263369.4 hg19 chr19 41,281,426 41,283,395 1,970
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