Information on TLR7
Basic details
Alt. symbols: TLR7like
Approved name: toll like receptor 7
Alt. names: toll-like receptor 7
Location: Xp22.2: 12867072 - 12890361 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.271000 | pLI: 0.87291755 | LOEUF: 0.305
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD74 |
Immunodeficiency 74, COVID-19 related | XLR |
301051 |
0 (0 fams) | |
| SLE17 |
Systemic lupus erythematosus 17 | XLD |
Gain of Function | 301080 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TLR7
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000380659.4 | CCDS14151 | Select | protein_coding | Yes | 5003 | NM_016562 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Skewed X-linked inactivation | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in TLR7
| ID | Year | Title | Journal | PMID | Variants |
|---|