GAB3 GRB2 associated binding protein 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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40 |
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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
| Target data | : |
MGeND data only
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| Filtering | : |
| 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 |
|---|---|
| MIM | 300482 OMIM |
| HGNC | HGNC:17515 HGNC |
| Ensembl | ENSG00000160219 Ensembl |
| AllianceGenome | HGNC:17515 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000369575.7 | hg38 | chrX | 154,675,253 | 154,751,057 | 75,805 |
| ENST00000424127.3 | hg38 | chrX | 154,675,249 | 154,751,077 | 75,829 |
| ENST00000424127.3 | hg19 | chrX | 153,903,526 | 153,979,352 | 75,827 |
| ENST00000369575.7 | hg19 | chrX | 153,903,530 | 153,979,332 | 75,803 |
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