SERPINB1 serpin family B member 1

Information
Symbol
SERPINB1
Type
protein-coding
Description
serpin family B member 1
Entrez Gene ID
1992
Genome
hg19
Position
chr6:2,832,566-2,842,097
Genome
hg38
Position
chr6:2,832,332-2,841,863
MIM
130135 OMIM
HGNC
HGNC:3311 HGNC
Ensembl
ENSG00000021355 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 4
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
54
0
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 :
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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 EI
SYNONYM ELANH2
SYNONYM HEL-S-27
SYNONYM HEL57
SYNONYM LEI
SYNONYM M/NEI
SYNONYM MNEI
SYNONYM PI-2
SYNONYM PI2
MIM 130135 OMIM
HGNC HGNC:3311 HGNC
Ensembl ENSG00000021355 Ensembl
AllianceGenome HGNC:3311
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380739.6 hg38 chr6 2,832,332 2,841,863 9,532
ENST00000380739.6 hg19 chr6 2,832,566 2,842,097 9,532
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