DENND5A DENN domain containing 5A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 28 |
Likely pathogenic | 0 | 22 |
Benign | 0 | 48 |
Likely benign | 0 | 578 |
Conflicting classifications of pathogenicity | 0 | 8 |
Uncertain significance | 0 | 428 |
Ranking
ClinVar | |
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0 |
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0 |
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98 |
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986 |
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4 |
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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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 | DEE49 |
SYNONYM | EIEE49 |
SYNONYM | RAB6IP1 |
MIM | 617278 OMIM |
HGNC | HGNC:19344 HGNC |
Ensembl | ENSG00000184014 Ensembl |
AllianceGenome | HGNC:19344 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000680294.1 | hg38 | chr11 | 9,138,851 | 9,265,119 | 126,269 |
ENST00000328194.8 | hg38 | chr11 | 9,138,825 | 9,265,350 | 126,526 |
ENST00000530044.5 | hg38 | chr11 | 9,139,459 | 9,265,087 | 125,629 |
ENST00000681203.1 | hg38 | chr11 | 9,138,838 | 9,265,154 | 126,317 |
ENST00000679568.1 | hg38 | chr11 | 9,138,849 | 9,265,119 | 126,271 |
ENST00000328194.8 | hg19 | chr11 | 9,160,372 | 9,286,897 | 126,526 |
ENST00000530044.5 | hg19 | chr11 | 9,161,006 | 9,286,634 | 125,629 |
ENST00000679568.1 | hg19 | chr11 | 9,160,396 | 9,286,666 | 126,271 |
ENST00000680294.1 | hg19 | chr11 | 9,160,398 | 9,286,666 | 126,269 |
ENST00000681203.1 | hg19 | chr11 | 9,160,385 | 9,286,701 | 126,317 |
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