BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5

Information
Symbol
BLOC1S5
Type
protein-coding
Description
biogenesis of lysosomal organelles complex 1 subunit 5
Entrez Gene ID
63915
Genome
hg19
Position
chr6:8,013,800-8,064,622
Genome
hg38
Position
chr6:8,013,567-8,064,389
MIM
607289 OMIM
HGNC
HGNC:18561 HGNC
Ensembl
ENSG00000188428 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Likely benign 0 8
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
42
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 BLOS5
SYNONYM HPS11
SYNONYM MU
SYNONYM MUTED
MIM 607289 OMIM
HGNC HGNC:18561 HGNC
Ensembl ENSG00000188428 Ensembl
AllianceGenome HGNC:18561
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397457.7 hg38 chr6 8,013,567 8,064,389 50,823
ENST00000543936.7 hg38 chr6 8,015,724 8,064,385 48,662
ENST00000397457.7 hg19 chr6 8,013,800 8,064,622 50,823
ENST00000543936.7 hg19 chr6 8,015,957 8,064,618 48,662
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