B9D2 B9 domain containing 2

Information
Symbol
B9D2
Type
protein-coding
Description
B9 domain containing 2
Entrez Gene ID
80776
Genome
hg19
Position
chr19:41,860,322-41,870,054
Genome
hg38
Position
chr19:41,354,417-41,364,149
MIM
611951 OMIM
HGNC
HGNC:28636 HGNC
Ensembl
ENSG00000123810 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 14
Benign 0 26
Likely benign 0 50
Uncertain significance 0 52
Ranking
ClinVar
0
0
40
98
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 ICIS-1
SYNONYM JBTS34
SYNONYM MKS10
SYNONYM MKSR-2
SYNONYM MKSR2
MIM 611951 OMIM
HGNC HGNC:28636 HGNC
Ensembl ENSG00000123810 Ensembl
AllianceGenome HGNC:28636
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000675972.1 hg38 chr19 41,354,417 41,363,930 9,514
ENST00000243578.8 hg38 chr19 41,354,417 41,364,149 9,733
ENST00000675972.1 hg19 chr19 41,860,322 41,869,835 9,514
ENST00000243578.8 hg19 chr19 41,860,322 41,870,054 9,733
Genome browser