Information on CFHR4
Basic details
Alt. symbols: CFHL4 | FHR-4 | FHR4
Approved name: complement factor H related 4
Alt. names: complement factor H-related 4
Location: 1q31.3: 196888014 - 196918795 (+)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: | pLI: 0.00000000 | LOEUF: 1.299
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 |
|---|---|---|---|---|---|
aHUS4b |
Hemolytic-uremic syndrome, atypical, susceptibility to, 4 | AD/AR |
- | 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 CFHR4
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000251424.8 | CCDS41451 | protein_coding | 6 | No | 1292 | NM_006684 | ||
| 202 | ENST00000367416.6 | CCDS55671 | protein_coding | 10 | No | 2178 | NM_001201551 | ||
| 204 | ENST00000608469.6 | 1 | Select | protein_coding | 10 | Yes | 2063 | NM_001201550 |
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 CFHR4
| ID | Year | Title | Journal | PMID | Variants |
|---|