ZNF383 zinc finger protein 383
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 36 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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36 |
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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
[No Data.]
Locus Zoom
Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 |
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MGeND data only
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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 | HSD17 |
SYNONYM | Zfp383 |
MIM | 619499 OMIM |
HGNC | HGNC:18609 HGNC |
Ensembl | ENSG00000188283 Ensembl |
AllianceGenome | HGNC:18609 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000590503.5 | hg38 | chr19 | 37,218,190 | 37,243,685 | 25,496 |
ENST00000589413.5 | hg38 | chr19 | 37,218,280 | 37,243,921 | 25,642 |
ENST00000352998.7 | hg38 | chr19 | 37,226,464 | 37,248,738 | 22,275 |
ENST00000684119.1 | hg38 | chr19 | 37,218,214 | 37,248,740 | 30,527 |
ENST00000590503.5 | hg19 | chr19 | 37,709,092 | 37,734,587 | 25,496 |
ENST00000684119.1 | hg19 | chr19 | 37,709,116 | 37,739,642 | 30,527 |
ENST00000589413.5 | hg19 | chr19 | 37,709,182 | 37,734,823 | 25,642 |
ENST00000352998.7 | hg19 | chr19 | 37,717,366 | 37,739,640 | 22,275 |
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