ERRFI1 ERBB receptor feedback inhibitor 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 2 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 40 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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48 |
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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
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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 | |||||||||||
Search Word
| 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 | GENE-33 |
| SYNONYM | MIG-6 |
| SYNONYM | MIG6 |
| SYNONYM | RALT |
| MIM | 608069 OMIM |
| HGNC | HGNC:18185 HGNC |
| Ensembl | ENSG00000116285 Ensembl |
| AllianceGenome | HGNC:18185 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000377482.10 | hg38 | chr1 | 8,011,727 | 8,026,309 | 14,583 |
| ENST00000469499.5 | hg38 | chr1 | 8,013,739 | 8,026,296 | 12,558 |
| ENST00000474874.5 | hg38 | chr1 | 8,004,404 | 8,026,283 | 21,880 |
| ENST00000467067.1 | hg38 | chr1 | 8,013,427 | 8,015,633 | 2,207 |
| ENST00000474874.5 | hg19 | chr1 | 8,064,464 | 8,086,343 | 21,880 |
| ENST00000377482.10 | hg19 | chr1 | 8,071,787 | 8,086,369 | 14,583 |
| ENST00000467067.1 | hg19 | chr1 | 8,073,487 | 8,075,693 | 2,207 |
| ENST00000469499.5 | hg19 | chr1 | 8,073,799 | 8,086,356 | 12,558 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | TSG |
| start | 8,071,778 |
| Gene Symbol | ERRFI1 |
| Entrez GeneId | 54,206 |
| Chr Band | 1p36 |
| end | 8,086,392 |
| chr | chr1 |
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