ITM2B integral membrane protein 2B
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Likely pathogenic | 0 | 2 |
| Benign | 4 | 10 |
| Likely benign | 0 | 84 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 144 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
16 |
 |
220 |
 |
8 |
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
|
| 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 | ABRI |
| SYNONYM | BRI |
| SYNONYM | BRI2 |
| SYNONYM | BRICD2B |
| SYNONYM | E25B |
| SYNONYM | E3-16 |
| SYNONYM | FBD |
| SYNONYM | RDGCA |
| SYNONYM | imBRI2 |
| MIM | 603904 OMIM |
| HGNC | HGNC:6174 HGNC |
| Ensembl | ENSG00000136156 Ensembl |
| AllianceGenome | HGNC:6174 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000378549.5 | hg38 | chr13 | 48,233,203 | 48,261,388 | 28,186 |
| ENST00000647800.2 | hg38 | chr13 | 48,233,206 | 48,270,357 | 37,152 |
| ENST00000649266.1 | hg38 | chr13 | 48,232,612 | 48,261,875 | 29,264 |
| ENST00000649266.1 | hg19 | chr13 | 48,806,748 | 48,836,011 | 29,264 |
| ENST00000378549.5 | hg19 | chr13 | 48,807,339 | 48,835,524 | 28,186 |
| ENST00000647800.2 | hg19 | chr13 | 48,807,342 | 48,844,493 | 37,152 |
Genome browser