BORCS5 BLOC-1 related complex subunit 5

Information
Symbol
BORCS5
Type
protein-coding
Description
BLOC-1 related complex subunit 5
Entrez Gene ID
118426
Genome
hg19
Position
chr12:12,510,012-12,624,167
Genome
hg38
Position
chr12:12,357,078-12,471,233
MIM
616598 OMIM
HGNC
HGNC:17950 HGNC
Ensembl
ENSG00000165714 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
26
2
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 LOH12CR1
SYNONYM LOH1CR12
MIM 616598 OMIM
HGNC HGNC:17950 HGNC
Ensembl ENSG00000165714 Ensembl
AllianceGenome HGNC:17950
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000542728.5 hg38 chr12 12,357,079 12,465,783 108,705
ENST00000314565.9 hg38 chr12 12,357,078 12,471,233 114,156
ENST00000298571.6 hg38 chr12 12,357,418 12,465,844 108,427
ENST00000314565.9 hg19 chr12 12,510,012 12,624,167 114,156
ENST00000542728.5 hg19 chr12 12,510,013 12,618,717 108,705
ENST00000298571.6 hg19 chr12 12,510,352 12,618,778 108,427
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