BSCL2 BSCL2 lipid droplet biogenesis associated, seipin

Information
Symbol
BSCL2
Type
protein-coding
Description
BSCL2 lipid droplet biogenesis associated, seipin
Entrez Gene ID
26580
Genome
hg19
Position
chr11:62,457,747-62,476,986
Genome
hg38
Position
chr11:62,690,275-62,709,514
MIM
606158 OMIM
HGNC
HGNC:15832 HGNC
Ensembl
ENSG00000168000 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 64
Likely pathogenic 0 32
Benign 10 50
Likely benign 0 326
Conflicting classifications of pathogenicity 0 92
not provided 0 2
Uncertain significance 0 514
Ranking
ClinVar
0
0
240
690
44
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 GNG3LG
SYNONYM HMN5
SYNONYM HMN5C
SYNONYM HMND13
SYNONYM PELD
SYNONYM SPG17
MIM 606158 OMIM
HGNC HGNC:15832 HGNC
Ensembl ENSG00000168000 Ensembl
AllianceGenome HGNC:15832
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000403550.5 hg38 chr11 62,690,295 62,706,234 15,940
ENST00000684475.1 hg38 chr11 62,689,289 62,707,587 18,299
ENST00000683296.1 hg38 chr11 62,690,275 62,707,587 17,313
ENST00000524862.6 hg38 chr11 62,690,295 62,709,536 19,242
ENST00000421906.5 hg38 chr11 62,690,315 62,706,344 16,030
ENST00000278893.11 hg38 chr11 62,690,276 62,706,315 16,040
ENST00000679883.1 hg38 chr11 62,690,275 62,709,537 19,263
ENST00000682223.1 hg38 chr11 62,690,345 62,707,587 17,243
ENST00000405837.5 hg38 chr11 62,690,275 62,709,514 19,240
ENST00000449636.6 hg38 chr11 62,689,289 62,707,426 18,138
ENST00000407022.7 hg38 chr11 62,690,295 62,706,344 16,050
ENST00000360796.10 hg38 chr11 62,690,275 62,707,424 17,150
ENST00000684067.1 hg38 chr11 62,690,288 62,707,587 17,300
ENST00000449636.6 hg19 chr11 62,456,761 62,474,898 18,138
ENST00000278893.11 hg19 chr11 62,457,748 62,473,787 16,040
ENST00000360796.10 hg19 chr11 62,457,747 62,474,896 17,150
ENST00000403550.5 hg19 chr11 62,457,767 62,473,706 15,940
ENST00000405837.5 hg19 chr11 62,457,747 62,476,986 19,240
ENST00000407022.7 hg19 chr11 62,457,767 62,473,816 16,050
ENST00000421906.5 hg19 chr11 62,457,787 62,473,816 16,030
ENST00000684475.1 hg19 chr11 62,456,761 62,475,059 18,299
ENST00000524862.6 hg19 chr11 62,457,767 62,477,008 19,242
ENST00000683296.1 hg19 chr11 62,457,747 62,475,059 17,313
ENST00000682223.1 hg19 chr11 62,457,817 62,475,059 17,243
ENST00000679883.1 hg19 chr11 62,457,747 62,477,009 19,263
ENST00000684067.1 hg19 chr11 62,457,760 62,475,059 17,300
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