FH fumarate hydratase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 10 | 588 |
| Likely pathogenic | 1 | 344 |
| Benign | 0 | 74 |
| Likely benign | 1 | 1,128 |
| Conflicting classifications of pathogenicity | 0 | 316 |
| not provided | 7 | 4 |
| other | 1 | 0 |
| Uncertain significance | 11 | 1,504 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
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1,272 |
 |
2,196 |
 |
6 |
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
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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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 | ||||||||||||||
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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 | FMRD |
| SYNONYM | HLRCC |
| SYNONYM | HsFH |
| SYNONYM | LRCC |
| SYNONYM | MCL |
| SYNONYM | MCUL1 |
| MIM | 136850 OMIM |
| HGNC | HGNC:3700 HGNC |
| Ensembl | ENSG00000091483 Ensembl |
| AllianceGenome | HGNC:3700 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000366560.4 | hg38 | chr1 | 241,497,603 | 241,519,755 | 22,153 |
| ENST00000683521.1 | hg38 | chr1 | 241,498,738 | 241,519,799 | 21,062 |
| ENST00000366560.4 | hg19 | chr1 | 241,660,903 | 241,683,055 | 22,153 |
| ENST00000683521.1 | hg19 | chr1 | 241,662,038 | 241,683,099 | 21,062 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | TSG |
| start | 241,660,856 |
| Gene Symbol | FH |
| Entrez GeneId | 2,271 |
| Chr Band | 1q42.1 |
| end | 241,683,084 |
| chr | chr1 |
| Name | fumarate hydratase |
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