B9D1 B9 domain containing 1

Information
Symbol
B9D1
Type
protein-coding
Description
B9 domain containing 1
Entrez Gene ID
27077
Genome
hg19
Position
chr17:19,246,488-19,266,036
Genome
hg38
Position
chr17:19,343,175-19,362,723
MIM
614144 OMIM
HGNC
HGNC:24123 HGNC
Ensembl
ENSG00000108641 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 10
Benign 0 46
Likely benign 0 182
Conflicting classifications of pathogenicity 0 20
not provided 2 0
Uncertain significance 0 182
Ranking
ClinVar
0
0
46
372
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 B9
SYNONYM EPPB9
SYNONYM JBTS27
SYNONYM MKS9
SYNONYM MKSR-1
SYNONYM MKSR1
MIM 614144 OMIM
HGNC HGNC:24123 HGNC
Ensembl ENSG00000108641 Ensembl
AllianceGenome HGNC:24123
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000582857.2 hg38 chr17 19,337,554 19,378,182 40,629
ENST00000674596.1 hg38 chr17 19,336,552 19,377,907 41,356
ENST00000268841.10 hg38 chr17 19,346,946 19,362,669 15,724
ENST00000647252.1 hg38 chr17 19,343,057 19,362,710 19,654
ENST00000671102.1 hg38 chr17 19,334,695 19,362,597 27,903
ENST00000642870.2 hg38 chr17 19,343,179 19,377,910 34,732
ENST00000395616.7 hg38 chr17 19,343,454 19,362,733 19,280
ENST00000477683.5 hg38 chr17 19,347,199 19,362,713 15,515
ENST00000663089.1 hg38 chr17 19,340,951 19,362,675 21,725
ENST00000461069.6 hg38 chr17 19,340,921 19,362,614 21,694
ENST00000675510.1 hg38 chr17 19,335,562 19,362,704 27,143
ENST00000477478.7 hg38 chr17 19,343,170 19,378,182 35,013
ENST00000261499.11 hg38 chr17 19,343,175 19,362,723 19,549
ENST00000582857.2 hg19 chr17 19,240,867 19,281,495 40,629
ENST00000461069.6 hg19 chr17 19,244,234 19,265,927 21,694
ENST00000477478.7 hg19 chr17 19,246,483 19,281,495 35,013
ENST00000261499.11 hg19 chr17 19,246,488 19,266,036 19,549
ENST00000477683.5 hg19 chr17 19,250,512 19,266,026 15,515
ENST00000642870.2 hg19 chr17 19,246,492 19,281,223 34,732
ENST00000395616.7 hg19 chr17 19,246,767 19,266,046 19,280
ENST00000268841.10 hg19 chr17 19,250,259 19,265,982 15,724
ENST00000647252.1 hg19 chr17 19,246,370 19,266,023 19,654
ENST00000663089.1 hg19 chr17 19,244,264 19,265,988 21,725
ENST00000671102.1 hg19 chr17 19,238,008 19,265,910 27,903
ENST00000674596.1 hg19 chr17 19,239,865 19,281,220 41,356
ENST00000675510.1 hg19 chr17 19,238,875 19,266,017 27,143
Genome browser