Information on TERC
Basic details
Alt. symbols: TR | hTR | TRC3 | SCARNA19
Approved name: telomerase RNA component
Alt. names: small Cajal body-specific RNA 19
Location: 3q26.2: 169764063 - 169765158 (-)
Gene type: lncRNA, 1 transcripts.
Scores: LoFtool: | pLI: | LOEUF:
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 |
|---|---|---|---|---|---|
DKCA1 |
Dyskeratosis congenita, autosomal dominant 1 | AD |
127550 |
0 (0 fams) | |
| PFBMFT2 |
Pulmonary fibrosis and/or bone marrow failure, telomere-related 2 | AD |
614743 |
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 TERC
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|
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. |
| - | 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 TERC
| ID | Year | Title | Journal | PMID | Variants |
|---|