BEX2 brain expressed X-linked 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 4 |
not provided | 6 | 0 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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34 |
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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
Locus Zoom
Variants
Search Word
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 |
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 |
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SYNONYM | BEX1 |
SYNONYM | DJ79P11.1 |
MIM | 300691 OMIM |
HGNC | HGNC:30933 HGNC |
Ensembl | ENSG00000133134 Ensembl |
AllianceGenome | HGNC:30933 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000372674.5 | hg38 | chrX | 103,309,502 | 103,311,007 | 1,506 |
ENST00000372677.8 | hg38 | chrX | 103,309,346 | 103,310,990 | 1,645 |
ENST00000536889.1 | hg38 | chrX | 103,309,354 | 103,310,955 | 1,602 |
ENST00000372677.8 | hg19 | chrX | 102,564,274 | 102,565,918 | 1,645 |
ENST00000536889.1 | hg19 | chrX | 102,564,282 | 102,565,883 | 1,602 |
ENST00000372674.5 | hg19 | chrX | 102,564,430 | 102,565,935 | 1,506 |
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