DBNDD1 dysbindin domain containing 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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32 |
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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
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 |
Search Word
Target data | : |
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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MIM | 620388 OMIM |
HGNC | HGNC:28455 HGNC |
Ensembl | ENSG00000003249 Ensembl |
AllianceGenome | HGNC:28455 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000568838.2 | hg38 | chr16 | 90,004,871 | 90,019,890 | 15,020 |
ENST00000002501.11 | hg38 | chr16 | 90,004,871 | 90,019,456 | 14,586 |
ENST00000568662.2 | hg38 | chr16 | 90,004,871 | 90,009,004 | 4,134 |
ENST00000304733.8 | hg38 | chr16 | 90,004,871 | 90,010,121 | 5,251 |
ENST00000392973.8 | hg38 | chr16 | 90,004,871 | 90,010,211 | 5,341 |
ENST00000568662.2 | hg19 | chr16 | 90,071,279 | 90,075,412 | 4,134 |
ENST00000304733.8 | hg19 | chr16 | 90,071,279 | 90,076,529 | 5,251 |
ENST00000392973.8 | hg19 | chr16 | 90,071,279 | 90,076,619 | 5,341 |
ENST00000002501.11 | hg19 | chr16 | 90,071,279 | 90,085,864 | 14,586 |
ENST00000568838.2 | hg19 | chr16 | 90,071,279 | 90,086,298 | 15,020 |
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