ESRRA estrogen related receptor alpha
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
54 |
 |
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
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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 | ERR1 |
| SYNONYM | ERRa |
| SYNONYM | ERRalpha |
| SYNONYM | ESRL1 |
| SYNONYM | NR3B1 |
| MIM | 601998 OMIM |
| HGNC | HGNC:3471 HGNC |
| Ensembl | ENSG00000173153 Ensembl |
| AllianceGenome | HGNC:3471 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000000442.11 | hg38 | chr11 | 64,305,524 | 64,316,743 | 11,220 |
| ENST00000406310.6 | hg38 | chr11 | 64,305,497 | 64,316,738 | 11,242 |
| ENST00000405666.5 | hg38 | chr11 | 64,306,227 | 64,316,743 | 10,517 |
| ENST00000677967.1 | hg38 | chr11 | 64,305,524 | 64,316,738 | 11,215 |
| ENST00000406310.6 | hg19 | chr11 | 64,072,969 | 64,084,210 | 11,242 |
| ENST00000677967.1 | hg19 | chr11 | 64,072,996 | 64,084,210 | 11,215 |
| ENST00000000442.11 | hg19 | chr11 | 64,072,996 | 64,084,215 | 11,220 |
| ENST00000405666.5 | hg19 | chr11 | 64,073,699 | 64,084,215 | 10,517 |
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