Information on RORC
Basic details
Alt. symbols: RZRG | RORG | NR1F3 | TOR
Approved name: RAR related orphan receptor C
Alt. names: RAR-related orphan receptor C
Location: 1q21.3: 151806071 - 151831845 (-)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.013800 | pLI: 0.99784514 | LOEUF: 0.161
Normal function
Dysfunction and disease
Immunodeficiency 42 [MIM:616622] [Load More]
[Gene NOT reviewed yet]
Associated conditions
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 RORC
Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
---|---|---|---|---|---|---|---|---|---|
202 | ENST00000356728.11 | 2 | CCDS30856 | protein_coding | 10 | No | 3055 | NM_001001523 | |
201 | ENST00000318247.7 | 1 | CCDS1004 | Select | protein_coding | 11 | Yes | 2996 | NM_005060 |
Published variants
Found 0 variants
Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
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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. |
- | 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 RORC
ID | Year | Title | Journal | PMID | Variants |
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