TBK1 TANK binding kinase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 1 | 82 |
Likely pathogenic | 0 | 32 |
Benign | 0 | 106 |
Likely benign | 0 | 276 |
Conflicting classifications of pathogenicity | 0 | 22 |
other | 0 | 4 |
Pathogenic; other | 0 | 2 |
risk factor | 0 | 4 |
Uncertain significance | 0 | 368 |
Ranking
ClinVar | |
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0 |
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0 |
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138 |
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684 |
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16 |
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
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | FTDALS4 |
SYNONYM | IIAE8 |
SYNONYM | NAK |
SYNONYM | T2K |
MIM | 604834 OMIM |
HGNC | HGNC:11584 HGNC |
Ensembl | ENSG00000183735 Ensembl |
AllianceGenome | HGNC:11584 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000676930.1 | hg38 | chr12 | 64,452,131 | 64,502,100 | 49,970 |
ENST00000650790.1 | hg38 | chr12 | 64,452,101 | 64,502,055 | 49,955 |
ENST00000677632.1 | hg38 | chr12 | 64,452,120 | 64,502,066 | 49,947 |
ENST00000331710.10 | hg38 | chr12 | 64,452,120 | 64,502,114 | 49,995 |
ENST00000652657.1 | hg38 | chr12 | 64,452,112 | 64,502,100 | 49,989 |
ENST00000676912.1 | hg38 | chr12 | 64,452,114 | 64,502,100 | 49,987 |
ENST00000650762.1 | hg38 | chr12 | 64,452,131 | 64,501,741 | 49,611 |
ENST00000651014.1 | hg38 | chr12 | 64,452,142 | 64,502,049 | 49,908 |
ENST00000678180.1 | hg38 | chr12 | 64,452,123 | 64,502,066 | 49,944 |
ENST00000677641.1 | hg38 | chr12 | 64,452,090 | 64,502,066 | 49,977 |
ENST00000677632.1 | hg19 | chr12 | 64,845,900 | 64,895,846 | 49,947 |
ENST00000651014.1 | hg19 | chr12 | 64,845,922 | 64,895,829 | 49,908 |
ENST00000331710.10 | hg19 | chr12 | 64,845,900 | 64,895,894 | 49,995 |
ENST00000650790.1 | hg19 | chr12 | 64,845,881 | 64,895,835 | 49,955 |
ENST00000652657.1 | hg19 | chr12 | 64,845,892 | 64,895,880 | 49,989 |
ENST00000676912.1 | hg19 | chr12 | 64,845,894 | 64,895,880 | 49,987 |
ENST00000650762.1 | hg19 | chr12 | 64,845,911 | 64,895,521 | 49,611 |
ENST00000677641.1 | hg19 | chr12 | 64,845,870 | 64,895,846 | 49,977 |
ENST00000676930.1 | hg19 | chr12 | 64,845,911 | 64,895,880 | 49,970 |
ENST00000678180.1 | hg19 | chr12 | 64,845,903 | 64,895,846 | 49,944 |
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