TLR3 toll like receptor 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 0 |
| Benign | 0 | 44 |
| Likely benign | 0 | 264 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| no classification for the single variant | 0 | 2 |
| not provided | 1 | 0 |
| risk factor | 0 | 6 |
| Uncertain significance | 0 | 536 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
72 |
![]() |
762 |
![]() |
6 |
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
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 | CD283 |
| SYNONYM | IIAE2 |
| SYNONYM | IMD83 |
| MIM | 603029 OMIM |
| HGNC | HGNC:11849 HGNC |
| Ensembl | ENSG00000164342 Ensembl |
| AllianceGenome | HGNC:11849 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000512264.1 | hg38 | chr4 | 186,081,611 | 186,085,024 | 3,414 |
| ENST00000296795.8 | hg38 | chr4 | 186,069,156 | 186,088,073 | 18,918 |
| ENST00000504367.1 | hg38 | chr4 | 186,081,617 | 186,084,889 | 3,273 |
| ENST00000698351.1 | hg38 | chr4 | 186,068,911 | 186,085,024 | 16,114 |
| ENST00000698354.1 | hg38 | chr4 | 186,081,592 | 186,088,044 | 6,453 |
| ENST00000508051.2 | hg38 | chr4 | 186,081,619 | 186,084,889 | 3,271 |
| ENST00000698351.1 | hg19 | chr4 | 186,990,065 | 187,006,178 | 16,114 |
| ENST00000296795.8 | hg19 | chr4 | 186,990,310 | 187,009,227 | 18,918 |
| ENST00000698354.1 | hg19 | chr4 | 187,002,746 | 187,009,198 | 6,453 |
| ENST00000512264.1 | hg19 | chr4 | 187,002,765 | 187,006,178 | 3,414 |
| ENST00000504367.1 | hg19 | chr4 | 187,002,771 | 187,006,043 | 3,273 |
| ENST00000508051.2 | hg19 | chr4 | 187,002,773 | 187,006,043 | 3,271 |
Genome browser




