DCTN1 dynactin subunit 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 8 |
Benign | 18 | 184 |
Likely benign | 0 | 1,008 |
Conflicting classifications of pathogenicity | 0 | 128 |
not provided | 0 | 2 |
Uncertain significance | 0 | 1,272 |
Uncertain significance; risk factor | 0 | 2 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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452 |
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1,930 |
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28 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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 |
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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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 |
---|---|
SYNONYM | DAP-150 |
SYNONYM | DP-150 |
SYNONYM | HMND14 |
SYNONYM | P135 |
MIM | 601143 OMIM |
HGNC | HGNC:2711 HGNC |
Ensembl | ENSG00000204843 Ensembl |
AllianceGenome | HGNC:2711 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000409868.5 | hg38 | chr2 | 74,361,158 | 74,391,865 | 30,708 |
ENST00000680606.1 | hg38 | chr2 | 74,361,155 | 74,391,866 | 30,712 |
ENST00000409567.7 | hg38 | chr2 | 74,361,499 | 74,380,299 | 18,801 |
ENST00000361874.8 | hg38 | chr2 | 74,361,154 | 74,380,355 | 19,202 |
ENST00000633691.1 | hg38 | chr2 | 74,361,157 | 74,374,735 | 13,579 |
ENST00000409240.5 | hg38 | chr2 | 74,361,157 | 74,392,087 | 30,931 |
ENST00000409438.5 | hg38 | chr2 | 74,361,157 | 74,374,735 | 13,579 |
ENST00000628224.3 | hg38 | chr2 | 74,361,155 | 74,380,311 | 19,157 |
ENST00000394003.7 | hg38 | chr2 | 74,361,154 | 74,380,355 | 19,202 |
ENST00000361874.8 | hg19 | chr2 | 74,588,281 | 74,607,482 | 19,202 |
ENST00000394003.7 | hg19 | chr2 | 74,588,281 | 74,607,482 | 19,202 |
ENST00000409438.5 | hg19 | chr2 | 74,588,284 | 74,601,862 | 13,579 |
ENST00000409240.5 | hg19 | chr2 | 74,588,284 | 74,619,214 | 30,931 |
ENST00000409868.5 | hg19 | chr2 | 74,588,285 | 74,618,992 | 30,708 |
ENST00000409567.7 | hg19 | chr2 | 74,588,626 | 74,607,426 | 18,801 |
ENST00000628224.3 | hg19 | chr2 | 74,588,282 | 74,607,438 | 19,157 |
ENST00000633691.1 | hg19 | chr2 | 74,588,284 | 74,601,862 | 13,579 |
ENST00000680606.1 | hg19 | chr2 | 74,588,282 | 74,618,993 | 30,712 |
Key | Value |
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strand | - |
start | 74,588,280 |
Gene Symbol | DCTN1 |
Entrez GeneId | 1,639 |
Chr Band | 2p13 |
end | 74,619,213 |
chr | chr2 |
Name | dynactin 1 |
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