BEX3 brain expressed X-linked 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 6 | 0 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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2 |
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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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | Bex |
| SYNONYM | DXS6984E |
| SYNONYM | HGR74 |
| SYNONYM | NADE |
| SYNONYM | NGFRAP1 |
| MIM | 300361 OMIM |
| HGNC | HGNC:13388 HGNC |
| Ensembl | ENSG00000166681 Ensembl |
| AllianceGenome | HGNC:13388 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000361298.9 | hg38 | chrX | 103,376,538 | 103,378,164 | 1,627 |
| ENST00000372645.3 | hg38 | chrX | 103,376,395 | 103,378,077 | 1,683 |
| ENST00000372634.1 | hg38 | chrX | 103,376,916 | 103,378,071 | 1,156 |
| ENST00000372635.1 | hg38 | chrX | 103,376,407 | 103,378,060 | 1,654 |
| ENST00000372645.3 | hg19 | chrX | 102,631,323 | 102,633,005 | 1,683 |
| ENST00000372635.1 | hg19 | chrX | 102,631,335 | 102,632,988 | 1,654 |
| ENST00000361298.9 | hg19 | chrX | 102,631,466 | 102,633,092 | 1,627 |
| ENST00000372634.1 | hg19 | chrX | 102,631,844 | 102,632,999 | 1,156 |
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