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 | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
12 |
![]() |
136 |
![]() |
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
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 | 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 |
Genome browser