FAHD2B fumarylacetoacetate hydrolase domain containing 2B
Information
- Symbol
- FAHD2B
- Type
- protein-coding
- Description
- fumarylacetoacetate hydrolase domain containing 2B
- Entrez Gene ID
- 151313
- Genome
- hg19
- Position
- chr2:97,749,320-97,760,619
- Genome
- hg38
- Position
- chr2:97,083,583-97,094,882
- HGNC
- HGNC:25318 HGNC
- Ensembl
- ENSG00000144199 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
36 |
 |
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
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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000414820.6 | hg38 | chr2 | 97,083,583 | 97,094,882 | 11,300 |
| ENST00000272610.3 | hg38 | chr2 | 97,083,583 | 97,094,882 | 11,300 |
| ENST00000414820.6 | hg19 | chr2 | 97,749,320 | 97,760,619 | 11,300 |
| ENST00000272610.3 | hg19 | chr2 | 97,749,320 | 97,760,619 | 11,300 |
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