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 | |
---|---|
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0 |
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0 |
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44 |
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264 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | BLOS3 |
SYNONYM | HPS8 |
SYNONYM | RP |
MIM | 609762 OMIM |
HGNC | HGNC:20914 HGNC |
Ensembl | ENSG00000189114 Ensembl |
AllianceGenome | HGNC:20914 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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