SH3BGR SH3 domain binding glutamate rich protein
Information
- Symbol
- SH3BGR
- Type
- protein-coding
- Description
- SH3 domain binding glutamate rich protein
- Entrez Gene ID
- 6450
- Genome
- hg19
- Position
- chr21:40,823,896-40,887,431
- Genome
- hg38
- Position
- chr21:39,451,970-39,515,504
- MIM
- 602230 OMIM
- HGNC
- HGNC:10822 HGNC
- Ensembl
- ENSG00000185437 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
not provided | 2 | 0 |
Uncertain significance | 0 | 34 |
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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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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Category | : |
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Filtering | : |
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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 |
---|---|
SYNONYM | 21-GARP |
MIM | 602230 OMIM |
HGNC | HGNC:10822 HGNC |
Ensembl | ENSG00000185437 Ensembl |
AllianceGenome | HGNC:10822 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000333634.10 | hg38 | chr21 | 39,451,970 | 39,515,504 | 63,535 |
ENST00000380637.7 | hg38 | chr21 | 39,445,855 | 39,515,506 | 69,652 |
ENST00000380634.5 | hg38 | chr21 | 39,445,865 | 39,515,355 | 69,491 |
ENST00000380631.5 | hg38 | chr21 | 39,445,942 | 39,515,207 | 69,266 |
ENST00000698170.1 | hg38 | chr21 | 39,498,590 | 39,515,506 | 16,917 |
ENST00000458295.5 | hg38 | chr21 | 39,445,875 | 39,515,270 | 69,396 |
ENST00000380637.7 | hg19 | chr21 | 40,817,781 | 40,887,433 | 69,653 |
ENST00000380634.5 | hg19 | chr21 | 40,817,791 | 40,887,282 | 69,492 |
ENST00000458295.5 | hg19 | chr21 | 40,817,801 | 40,887,197 | 69,397 |
ENST00000380631.5 | hg19 | chr21 | 40,817,868 | 40,887,134 | 69,267 |
ENST00000333634.10 | hg19 | chr21 | 40,823,896 | 40,887,431 | 63,536 |
ENST00000698170.1 | hg19 | chr21 | 40,870,516 | 40,887,433 | 16,918 |
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