TLR1 toll like receptor 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 30 |
| Likely benign | 0 | 44 |
| not provided | 0 | 10 |
| Uncertain significance | 0 | 84 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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12 |
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136 |
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8 |
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
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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 | |||||||||||
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MGeND data only
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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 | : |
MGeND data only
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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 | CD281 |
| SYNONYM | TIL |
| SYNONYM | TIL. LPRS5 |
| SYNONYM | rsc786 |
| MIM | 601194 OMIM |
| HGNC | HGNC:11847 HGNC |
| Ensembl | ENSG00000174125 Ensembl |
| AllianceGenome | HGNC:11847 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000502213.6 | hg38 | chr4 | 38,796,283 | 38,804,376 | 8,094 |
| ENST00000308979.7 | hg38 | chr4 | 38,796,255 | 38,804,791 | 8,537 |
| ENST00000308979.7 | hg19 | chr4 | 38,797,876 | 38,806,412 | 8,537 |
| ENST00000502213.6 | hg19 | chr4 | 38,797,904 | 38,805,997 | 8,094 |
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