TFRC transferrin receptor
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 132 |
| Likely benign | 0 | 468 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 3 | 0 |
| Uncertain significance | 0 | 442 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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84 |
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956 |
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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 | : |
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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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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 | CD71 |
| SYNONYM | IMD46 |
| SYNONYM | T9 |
| SYNONYM | TFR |
| SYNONYM | TFR1 |
| SYNONYM | TR |
| SYNONYM | TRFR |
| SYNONYM | p90 |
| MIM | 190010 OMIM |
| HGNC | HGNC:11763 HGNC |
| Ensembl | ENSG00000072274 Ensembl |
| AllianceGenome | HGNC:11763 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000698280.1 | hg38 | chr3 | 196,049,288 | 196,081,528 | 32,241 |
| ENST00000698286.1 | hg38 | chr3 | 196,049,288 | 196,082,090 | 32,803 |
| ENST00000698285.1 | hg38 | chr3 | 196,049,288 | 196,082,090 | 32,803 |
| ENST00000698283.1 | hg38 | chr3 | 196,049,288 | 196,082,090 | 32,803 |
| ENST00000698291.1 | hg38 | chr3 | 196,049,288 | 196,082,090 | 32,803 |
| ENST00000698290.1 | hg38 | chr3 | 196,049,288 | 196,082,090 | 32,803 |
| ENST00000698295.1 | hg38 | chr3 | 196,052,698 | 196,082,082 | 29,385 |
| ENST00000420415.5 | hg38 | chr3 | 196,049,284 | 196,082,094 | 32,811 |
| ENST00000392396.7 | hg38 | chr3 | 196,049,476 | 196,082,090 | 32,615 |
| ENST00000360110.9 | hg38 | chr3 | 196,049,284 | 196,082,090 | 32,807 |
| ENST00000360110.9 | hg19 | chr3 | 195,776,155 | 195,808,961 | 32,807 |
| ENST00000420415.5 | hg19 | chr3 | 195,776,155 | 195,808,965 | 32,811 |
| ENST00000698290.1 | hg19 | chr3 | 195,776,159 | 195,808,961 | 32,803 |
| ENST00000698291.1 | hg19 | chr3 | 195,776,159 | 195,808,961 | 32,803 |
| ENST00000392396.7 | hg19 | chr3 | 195,776,347 | 195,808,961 | 32,615 |
| ENST00000698295.1 | hg19 | chr3 | 195,779,569 | 195,808,953 | 29,385 |
| ENST00000698280.1 | hg19 | chr3 | 195,776,159 | 195,808,399 | 32,241 |
| ENST00000698283.1 | hg19 | chr3 | 195,776,159 | 195,808,961 | 32,803 |
| ENST00000698285.1 | hg19 | chr3 | 195,776,159 | 195,808,961 | 32,803 |
| ENST00000698286.1 | hg19 | chr3 | 195,776,159 | 195,808,961 | 32,803 |
| Key | Value |
|---|---|
| strand | - |
| start | 195,776,154 |
| Gene Symbol | TFRC |
| Entrez GeneId | 7,037 |
| Chr Band | 3q29 |
| end | 195,809,031 |
| chr | chr3 |
| Name | transferrin receptor (p90, CD71) |
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