GCN1 GCN1 activator of EIF2AK4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 20 |
Likely benign | 0 | 16 |
Uncertain significance | 0 | 254 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
4 |
![]() |
282 |
![]() |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
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
|
Category | : |
|
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 | GCN1L |
SYNONYM | GCN1L1 |
SYNONYM | PRIC295 |
MIM | 605614 OMIM |
HGNC | HGNC:4199 HGNC |
Ensembl | ENSG00000089154 Ensembl |
AllianceGenome | HGNC:4199 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000300648.7 | hg38 | chr12 | 120,127,202 | 120,194,715 | 67,514 |
ENST00000300648.7 | hg19 | chr12 | 120,565,006 | 120,632,518 | 67,513 |
Genome browser