GSDMB gasdermin B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 14 |
not provided | 40 | 0 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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50 |
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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
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 |
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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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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 |
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SYNONYM | GSDMB-1 |
SYNONYM | GSDML |
SYNONYM | PP4052 |
SYNONYM | PRO2521 |
MIM | 611221 OMIM |
HGNC | HGNC:23690 HGNC |
Ensembl | ENSG00000073605 Ensembl |
AllianceGenome | HGNC:23690 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000418519.6 | hg38 | chr17 | 39,904,595 | 39,918,635 | 14,041 |
ENST00000394179.5 | hg38 | chr17 | 39,904,597 | 39,917,316 | 12,720 |
ENST00000394175.6 | hg38 | chr17 | 39,904,595 | 39,917,540 | 12,946 |
ENST00000309481.11 | hg38 | chr17 | 39,904,595 | 39,918,590 | 13,996 |
ENST00000520542.5 | hg38 | chr17 | 39,904,597 | 39,918,635 | 14,039 |
ENST00000360317.7 | hg38 | chr17 | 39,904,595 | 39,917,316 | 12,722 |
ENST00000360317.7 | hg19 | chr17 | 38,060,848 | 38,073,569 | 12,722 |
ENST00000394175.6 | hg19 | chr17 | 38,060,848 | 38,073,793 | 12,946 |
ENST00000309481.11 | hg19 | chr17 | 38,060,848 | 38,074,843 | 13,996 |
ENST00000418519.6 | hg19 | chr17 | 38,060,848 | 38,074,888 | 14,041 |
ENST00000394179.5 | hg19 | chr17 | 38,060,850 | 38,073,569 | 12,720 |
ENST00000520542.5 | hg19 | chr17 | 38,060,850 | 38,074,888 | 14,039 |
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