EXOC1 exocyst complex component 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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60 |
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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
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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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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 | BM-102 |
SYNONYM | SEC3 |
SYNONYM | SEC3L1 |
SYNONYM | SEC3P |
MIM | 607879 OMIM |
HGNC | HGNC:30380 HGNC |
Ensembl | ENSG00000090989 Ensembl |
AllianceGenome | HGNC:30380 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000349598.6 | hg38 | chr4 | 55,853,739 | 55,905,034 | 51,296 |
ENST00000381295.7 | hg38 | chr4 | 55,853,648 | 55,905,086 | 51,439 |
ENST00000346134.11 | hg38 | chr4 | 55,853,675 | 55,905,034 | 51,360 |
ENST00000381295.7 | hg19 | chr4 | 56,719,814 | 56,771,252 | 51,439 |
ENST00000346134.11 | hg19 | chr4 | 56,719,841 | 56,771,200 | 51,360 |
ENST00000349598.6 | hg19 | chr4 | 56,719,905 | 56,771,200 | 51,296 |
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