Information on
Basic details
Alt. symbols:
Approved name:
Alt. names:
Location: : -
Gene type: , transcripts.
Scores: LoFtool: | pLI: | LOEUF:
Normal function
Dysfunction and disease
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[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
3792 |
Anauxetic dysplasia 1 | AR |
607095 |
0 (0 fams) | |
| CHH |
Cartilage-hair hypoplasia | AR |
250250 |
0 (0 fams) | |
| MDWH |
Metaphyseal dysplasia without hypotrichosis | AR |
250460 |
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
| 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 | - | |
| 1997 | Uniparental disomy | 9156319 | |
| - | Cryptic splicing | - | 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
| ID | Year | Title | Journal | PMID | Variants |
|---|