EOMES eomesodermin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 24 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| Uncertain significance | 0 | 66 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
10 |
![]() |
86 |
![]() |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | TBR2 |
| MIM | 604615 OMIM |
| HGNC | HGNC:3372 HGNC |
| Ensembl | ENSG00000163508 Ensembl |
| AllianceGenome | HGNC:3372 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000449599.4 | hg38 | chr3 | 27,715,953 | 27,722,323 | 6,371 |
| ENST00000461503.2 | hg38 | chr3 | 27,716,509 | 27,722,711 | 6,203 |
| ENST00000295743.8 | hg38 | chr3 | 27,715,949 | 27,722,498 | 6,550 |
| ENST00000295743.8 | hg19 | chr3 | 27,757,440 | 27,763,989 | 6,550 |
| ENST00000449599.4 | hg19 | chr3 | 27,757,444 | 27,763,814 | 6,371 |
| ENST00000461503.2 | hg19 | chr3 | 27,758,000 | 27,764,202 | 6,203 |
Genome browser




