DCTN2 dynactin subunit 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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
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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 |
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Target data | : |
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 | DCTN50 |
SYNONYM | DYNAMITIN |
SYNONYM | HEL-S-77 |
SYNONYM | RBP50 |
MIM | 607376 OMIM |
HGNC | HGNC:2712 HGNC |
Ensembl | ENSG00000175203 Ensembl |
AllianceGenome | HGNC:2712 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000678653.1 | hg38 | chr12 | 57,530,310 | 57,546,691 | 16,382 |
ENST00000678505.1 | hg38 | chr12 | 57,530,074 | 57,547,177 | 17,104 |
ENST00000543672.6 | hg38 | chr12 | 57,530,310 | 57,547,177 | 16,868 |
ENST00000434715.7 | hg38 | chr12 | 57,530,311 | 57,547,141 | 16,831 |
ENST00000548249.6 | hg38 | chr12 | 57,530,051 | 57,547,192 | 17,142 |
ENST00000548249.6 | hg19 | chr12 | 57,923,834 | 57,940,975 | 17,142 |
ENST00000434715.7 | hg19 | chr12 | 57,924,094 | 57,940,924 | 16,831 |
ENST00000543672.6 | hg19 | chr12 | 57,924,093 | 57,940,960 | 16,868 |
ENST00000678505.1 | hg19 | chr12 | 57,923,857 | 57,940,960 | 17,104 |
ENST00000678653.1 | hg19 | chr12 | 57,924,093 | 57,940,474 | 16,382 |
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