Information on THBD
Basic details
Alt. symbols: CD141 | THRM | BDCA-3
Approved name: thrombomodulin
Alt. names: fetomodulin
Location: 20p11.21: 23045633 - 23049672 (-)
Gene type: protein_coding, 1 transcripts.
Scores: LoFtool: | pLI: 0.05376900 | LOEUF: 0.791
Normal function
Dysfunction and disease
Thrombophilia due to thrombomodulin defect [MIM:614486] | {Hemolytic uremic syndrome, atypical, susceptibility to, 6} [MIM:612926] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
THPH12 |
Thrombophilia 12 due to thrombomodulin defect | AD |
614486 |
0 (0 fams) | |
| aHUS6 |
Hemolytic uremic syndrome, atypical, susceptibility to, 6 | AD |
612926 |
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 THBD
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000377103.3 | 1 | CCDS13148 | Select | protein_coding | 1 | Yes | 4040 | NM_000361 |
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 THBD
| ID | Year | Title | Journal | PMID | Variants |
|---|