GNB3 G protein subunit beta 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 64 |
| Likely benign | 0 | 258 |
| Uncertain significance | 0 | 314 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
46 |
 |
584 |
 |
4 |
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
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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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| 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 | CSNB1H |
| SYNONYM | HG2D |
| MIM | 139130 OMIM |
| HGNC | HGNC:4400 HGNC |
| Ensembl | ENSG00000111664 Ensembl |
| AllianceGenome | HGNC:4400 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000229264.8 | hg38 | chr12 | 6,840,925 | 6,847,393 | 6,469 |
| ENST00000435982.6 | hg38 | chr12 | 6,840,974 | 6,846,898 | 5,925 |
| ENST00000229264.8 | hg19 | chr12 | 6,950,089 | 6,956,557 | 6,469 |
| ENST00000435982.6 | hg19 | chr12 | 6,950,138 | 6,956,062 | 5,925 |
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