BORCS8 BLOC-1 related complex subunit 8

Information
Symbol
BORCS8
Type
protein-coding
Description
BLOC-1 related complex subunit 8
Entrez Gene ID
729991
Genome
hg19
Position
chr19:19,287,715-19,302,961
Genome
hg38
Position
chr19:19,176,906-19,192,152
MIM
616601 OMIM
HGNC
HGNC:37247 HGNC
Ensembl
ENSG00000254901 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 2 0
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
44
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 MEF2BNB
MIM 616601 OMIM
HGNC HGNC:37247 HGNC
Ensembl ENSG00000254901 Ensembl
AllianceGenome HGNC:37247
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000585679.1 hg38 chr19 19,176,906 19,192,139 15,234
ENST00000462790.8 hg38 chr19 19,176,906 19,192,152 15,247
ENST00000477565.3 hg38 chr19 19,181,882 19,192,589 10,708
ENST00000585679.1 hg19 chr19 19,287,715 19,302,948 15,234
ENST00000462790.8 hg19 chr19 19,287,715 19,302,961 15,247
ENST00000477565.3 hg19 chr19 19,292,691 19,303,398 10,708
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