JOSD2 Josephin domain containing 2

Information
Symbol
JOSD2
Type
protein-coding
Description
Josephin domain containing 2
Entrez Gene ID
126119
Genome
hg19
Position
chr19:51,009,255-51,014,448
Genome
hg38
Position
chr19:50,505,998-50,511,191
MIM
615324 OMIM
HGNC
HGNC:28853 HGNC
Ensembl
ENSG00000161677 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
28
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 SBBI54
MIM 615324 OMIM
HGNC HGNC:28853 HGNC
Ensembl ENSG00000161677 Ensembl
AllianceGenome HGNC:28853
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000595669.5 hg38 chr19 50,506,002 50,511,220 5,219
ENST00000598418.6 hg38 chr19 50,505,998 50,511,191 5,194
ENST00000601423.5 hg38 chr19 50,505,998 50,511,162 5,165
ENST00000601423.5 hg19 chr19 51,009,255 51,014,419 5,165
ENST00000598418.6 hg19 chr19 51,009,255 51,014,448 5,194
ENST00000595669.5 hg19 chr19 51,009,259 51,014,477 5,219
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