FANCG FA complementation group G
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 14 | 222 |
| Likely pathogenic | 2 | 172 |
| Benign | 0 | 46 |
| Likely benign | 0 | 854 |
| Conflicting classifications of pathogenicity | 0 | 58 |
| not provided | 0 | 4 |
| Uncertain significance | 13 | 518 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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324 |
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1,376 |
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40 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||||||||||||||
Search Word
| Target data | : |
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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 | FAG |
| SYNONYM | XRCC9 |
| MIM | 602956 OMIM |
| HGNC | HGNC:3588 HGNC |
| Ensembl | ENSG00000221829 Ensembl |
| AllianceGenome | HGNC:3588 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000378643.8 | hg38 | chr9 | 35,073,839 | 35,079,942 | 6,104 |
| ENST00000448890.2 | hg38 | chr9 | 35,073,847 | 35,079,942 | 6,096 |
| ENST00000696710.1 | hg38 | chr9 | 35,073,873 | 35,079,926 | 6,054 |
| ENST00000696715.1 | hg38 | chr9 | 35,074,005 | 35,079,926 | 5,922 |
| ENST00000378643.8 | hg19 | chr9 | 35,073,836 | 35,079,939 | 6,104 |
| ENST00000448890.2 | hg19 | chr9 | 35,073,844 | 35,079,939 | 6,096 |
| ENST00000696710.1 | hg19 | chr9 | 35,073,870 | 35,079,923 | 6,054 |
| ENST00000696715.1 | hg19 | chr9 | 35,074,002 | 35,079,923 | 5,922 |
| Key | Value |
|---|---|
| strand | - |
| start | 35,073,834 |
| Gene Symbol | FANCG |
| Entrez GeneId | 2,189 |
| Chr Band | 9p13 |
| end | 35,080,012 |
| chr | chr9 |
| Name | Fanconi anemia, complementation group G |
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