GRB2 growth factor receptor bound protein 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
4 |
 |
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
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 | |||||||||||
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| Target data | : |
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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| Filtering | : |
| 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 | ASH |
| SYNONYM | EGFRBP-GRB2 |
| SYNONYM | Grb3-3 |
| SYNONYM | MST084 |
| SYNONYM | MSTP084 |
| SYNONYM | NCKAP2 |
| MIM | 108355 OMIM |
| HGNC | HGNC:4566 HGNC |
| Ensembl | ENSG00000177885 Ensembl |
| AllianceGenome | HGNC:4566 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000316615.9 | hg38 | chr17 | 75,318,076 | 75,405,709 | 87,634 |
| ENST00000392564.5 | hg38 | chr17 | 75,318,076 | 75,393,864 | 75,789 |
| ENST00000392563.5 | hg38 | chr17 | 75,318,076 | 75,393,656 | 75,581 |
| ENST00000392562.5 | hg38 | chr17 | 75,318,076 | 75,405,486 | 87,411 |
| ENST00000578961.5 | hg38 | chr17 | 75,320,341 | 75,393,803 | 73,463 |
| ENST00000316804.10 | hg38 | chr17 | 75,318,076 | 75,405,678 | 87,603 |
| ENST00000392563.5 | hg19 | chr17 | 73,314,157 | 73,389,737 | 75,581 |
| ENST00000392564.5 | hg19 | chr17 | 73,314,157 | 73,389,945 | 75,789 |
| ENST00000392562.5 | hg19 | chr17 | 73,314,157 | 73,401,567 | 87,411 |
| ENST00000316804.10 | hg19 | chr17 | 73,314,157 | 73,401,759 | 87,603 |
| ENST00000316615.9 | hg19 | chr17 | 73,314,157 | 73,401,790 | 87,634 |
| ENST00000578961.5 | hg19 | chr17 | 73,316,422 | 73,389,884 | 73,463 |
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