ERBB3 erb-b2 receptor tyrosine kinase 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 14 |
| Likely pathogenic | 2 | 30 |
| Benign | 0 | 80 |
| Likely benign | 0 | 66 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 101 | 0 |
| Uncertain significance | 9 | 102 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
30 |
![]() |
216 |
![]() |
32 |
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 | ErbB-3 |
| SYNONYM | FERLK |
| SYNONYM | HER3 |
| SYNONYM | LCCS2 |
| SYNONYM | MDA-BF-1 |
| SYNONYM | VSCN1 |
| SYNONYM | c-erbB-3 |
| SYNONYM | c-erbB3 |
| SYNONYM | erbB3-S |
| SYNONYM | p180-ErbB3 |
| SYNONYM | p45-sErbB3 |
| SYNONYM | p85-sErbB3 |
| MIM | 190151 OMIM |
| HGNC | HGNC:3431 HGNC |
| Ensembl | ENSG00000065361 Ensembl |
| AllianceGenome | HGNC:3431 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000549832.1 | hg38 | chr12 | 56,098,251 | 56,103,499 | 5,249 |
| ENST00000683164.1 | hg38 | chr12 | 56,083,313 | 56,103,486 | 20,174 |
| ENST00000411731.6 | hg38 | chr12 | 56,080,137 | 56,085,623 | 5,487 |
| ENST00000683018.1 | hg38 | chr12 | 56,083,323 | 56,103,486 | 20,164 |
| ENST00000267101.8 | hg38 | chr12 | 56,080,165 | 56,103,505 | 23,341 |
| ENST00000683059.1 | hg38 | chr12 | 56,079,874 | 56,103,486 | 23,613 |
| ENST00000415288.6 | hg38 | chr12 | 56,083,319 | 56,102,336 | 19,018 |
| ENST00000411731.6 | hg19 | chr12 | 56,473,921 | 56,479,407 | 5,487 |
| ENST00000267101.8 | hg19 | chr12 | 56,473,949 | 56,497,289 | 23,341 |
| ENST00000415288.6 | hg19 | chr12 | 56,477,103 | 56,496,120 | 19,018 |
| ENST00000549832.1 | hg19 | chr12 | 56,492,035 | 56,497,283 | 5,249 |
| ENST00000683018.1 | hg19 | chr12 | 56,477,107 | 56,497,270 | 20,164 |
| ENST00000683059.1 | hg19 | chr12 | 56,473,658 | 56,497,270 | 23,613 |
| ENST00000683164.1 | hg19 | chr12 | 56,477,097 | 56,497,270 | 20,174 |
| Key | Value |
|---|---|
| strand | + |
| start | 56,473,808 |
| Gene Symbol | ERBB3 |
| Entrez GeneId | 2,065 |
| Chr Band | 12q13 |
| end | 56,497,290 |
| chr | chr12 |
| Name | erb-b2 receptor tyrosine kinase 3 |
Genome browser




