JOSD1 Josephin domain containing 1

Information
Symbol
JOSD1
Type
protein-coding
Description
Josephin domain containing 1
Entrez Gene ID
9929
Genome
hg19
Position
chr22:39,081,548-39,096,948
Genome
hg38
Position
chr22:38,685,543-38,700,943
MIM
615323 OMIM
HGNC
HGNC:28953 HGNC
Ensembl
ENSG00000100221 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 10
Ranking
ClinVar
0
0
0
12
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 :
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 dJ508I15.2
MIM 615323 OMIM
HGNC HGNC:28953 HGNC
Ensembl ENSG00000100221 Ensembl
AllianceGenome HGNC:28953
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000683374.1 hg38 chr22 38,685,543 38,700,943 15,401
ENST00000216039.9 hg38 chr22 38,685,543 38,700,667 15,125
ENST00000216039.9 hg19 chr22 39,081,548 39,096,672 15,125
ENST00000683374.1 hg19 chr22 39,081,548 39,096,948 15,401
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