BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3

Information
Symbol
BLOC1S3
Type
protein-coding
Description
biogenesis of lysosomal organelles complex 1 subunit 3
Entrez Gene ID
388552
Genome
hg19
Position
chr19:45,682,042-45,685,058
Genome
hg38
Position
chr19:45,178,784-45,181,800
MIM
609762 OMIM
HGNC
HGNC:20914 HGNC
Ensembl
ENSG00000189114 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Benign 0 20
Likely benign 0 166
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 128
Ranking
ClinVar
0
0
44
264
10
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 BLOS3
SYNONYM HPS8
SYNONYM RP
MIM 609762 OMIM
HGNC HGNC:20914 HGNC
Ensembl ENSG00000189114 Ensembl
AllianceGenome HGNC:20914
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000433642.3 hg38 chr19 45,178,784 45,181,800 3,017
ENST00000587722.1 hg38 chr19 45,179,223 45,179,954 732
ENST00000433642.3 hg19 chr19 45,682,042 45,685,058 3,017
ENST00000587722.1 hg19 chr19 45,682,481 45,683,212 732
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