GCFC2 GC-rich sequence DNA-binding factor 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
78 |
 |
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
[No Data.]
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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| Search word | : | |
| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C2orf3 |
| SYNONYM | DNABF |
| SYNONYM | GCF |
| SYNONYM | TCF9 |
| MIM | 189901 OMIM |
| HGNC | HGNC:1317 HGNC |
| Ensembl | ENSG00000005436 Ensembl |
| AllianceGenome | HGNC:1317 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000541687.5 | hg38 | chr2 | 75,662,708 | 75,710,985 | 48,278 |
| ENST00000321027.8 | hg38 | chr2 | 75,662,705 | 75,710,915 | 48,211 |
| ENST00000409857.7 | hg38 | chr2 | 75,664,419 | 75,710,892 | 46,474 |
| ENST00000470503.1 | hg38 | chr2 | 75,701,796 | 75,710,899 | 9,104 |
| ENST00000321027.8 | hg19 | chr2 | 75,889,831 | 75,938,041 | 48,211 |
| ENST00000541687.5 | hg19 | chr2 | 75,889,834 | 75,938,111 | 48,278 |
| ENST00000409857.7 | hg19 | chr2 | 75,891,545 | 75,938,018 | 46,474 |
| ENST00000470503.1 | hg19 | chr2 | 75,928,922 | 75,938,025 | 9,104 |
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