SERPINB6 serpin family B member 6

Information
Symbol
SERPINB6
Type
protein-coding
Description
serpin family B member 6
Entrez Gene ID
5269
Genome
hg19
Position
chr6:2,948,398-2,971,282
Genome
hg38
Position
chr6:2,948,164-2,971,048
MIM
173321 OMIM
HGNC
HGNC:8950 HGNC
Ensembl
ENSG00000124570 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 4
Benign 0 78
Likely benign 0 116
Conflicting classifications of pathogenicity 0 20
not provided 0 2
Uncertain significance 0 92
Ranking
ClinVar
0
0
72
212
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 :
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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 CAP
SYNONYM DFNB91
SYNONYM MSTP057
SYNONYM PI-6
SYNONYM PI6
SYNONYM PTI
SYNONYM SPI3
MIM 173321 OMIM
HGNC HGNC:8950 HGNC
Ensembl ENSG00000124570 Ensembl
AllianceGenome HGNC:8950
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380520.6 hg38 chr6 2,948,196 2,971,661 23,466
ENST00000644178.1 hg38 chr6 2,948,163 2,970,743 22,581
ENST00000612421.3 hg38 chr6 2,948,164 2,971,048 22,885
ENST00000380539.7 hg38 chr6 2,948,159 2,971,567 23,409
ENST00000380546.7 hg38 chr6 2,948,159 2,971,585 23,427
ENST00000644388.1 hg38 chr6 2,948,193 2,971,644 23,452
ENST00000380529.5 hg38 chr6 2,948,159 2,971,206 23,048
ENST00000380524.5 hg38 chr6 2,948,159 2,962,108 13,950
ENST00000642543.1 hg38 chr6 2,948,175 2,971,276 23,102
ENST00000645580.1 hg38 chr6 2,948,217 2,970,714 22,498
ENST00000616722.4 hg38 chr6 2,948,171 2,972,165 23,995
ENST00000643098.1 hg38 chr6 2,948,159 2,971,605 23,447
ENST00000380524.5 hg19 chr6 2,948,393 2,962,342 13,950
ENST00000380529.5 hg19 chr6 2,948,393 2,971,440 23,048
ENST00000380539.7 hg19 chr6 2,948,393 2,971,801 23,409
ENST00000380546.7 hg19 chr6 2,948,393 2,971,819 23,427
ENST00000616722.4 hg19 chr6 2,948,405 2,972,399 23,995
ENST00000380520.6 hg19 chr6 2,948,430 2,971,895 23,466
ENST00000612421.3 hg19 chr6 2,948,398 2,971,282 22,885
ENST00000644178.1 hg19 chr6 2,948,397 2,970,977 22,581
ENST00000642543.1 hg19 chr6 2,948,409 2,971,510 23,102
ENST00000643098.1 hg19 chr6 2,948,393 2,971,839 23,447
ENST00000644388.1 hg19 chr6 2,948,427 2,971,878 23,452
ENST00000645580.1 hg19 chr6 2,948,451 2,970,948 22,498
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