DOCK7 dedicator of cytokinesis 7
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 104 |
Likely pathogenic | 0 | 64 |
Benign | 0 | 248 |
Likely benign | 0 | 1,486 |
Conflicting classifications of pathogenicity | 0 | 20 |
Uncertain significance | 0 | 1,424 |
Ranking
ClinVar | |
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0 |
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0 |
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338 |
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2,934 |
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16 |
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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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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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 | DEE23 |
SYNONYM | EIEE23 |
SYNONYM | ZIR2 |
MIM | 615730 OMIM |
HGNC | HGNC:19190 HGNC |
Ensembl | ENSG00000116641 Ensembl |
AllianceGenome | HGNC:19190 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000635253.2 | hg38 | chr1 | 62,454,726 | 62,688,386 | 233,661 |
ENST00000634264.1 | hg38 | chr1 | 62,455,414 | 62,688,264 | 232,851 |
ENST00000404627.3 | hg38 | chr1 | 62,584,105 | 62,688,368 | 104,264 |
ENST00000635123.1 | hg38 | chr1 | 62,455,414 | 62,688,264 | 232,851 |
ENST00000454575.6 | hg38 | chr1 | 62,454,830 | 62,688,275 | 233,446 |
ENST00000251157.10 | hg38 | chr1 | 62,454,726 | 62,688,264 | 233,539 |
ENST00000340370.10 | hg38 | chr1 | 62,455,013 | 62,688,264 | 233,252 |
ENST00000251157.10 | hg19 | chr1 | 62,920,397 | 63,153,935 | 233,539 |
ENST00000454575.6 | hg19 | chr1 | 62,920,501 | 63,153,946 | 233,446 |
ENST00000340370.10 | hg19 | chr1 | 62,920,684 | 63,153,935 | 233,252 |
ENST00000634264.1 | hg19 | chr1 | 62,921,085 | 63,153,935 | 232,851 |
ENST00000404627.3 | hg19 | chr1 | 63,049,776 | 63,154,039 | 104,264 |
ENST00000635123.1 | hg19 | chr1 | 62,921,085 | 63,153,935 | 232,851 |
ENST00000635253.2 | hg19 | chr1 | 62,920,397 | 63,154,057 | 233,661 |
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