Information on CFHR1
Basic details
Alt. symbols: HFL1 | CFHL1 | CFHR1P | HFL2 | CFHL1P | H36-1 | FHR1 | CFHL | H36-2
Approved name: complement factor H related 1
Alt. names: H factor (complement)-like 1, complement factor H-related 1 pseudogene, H factor (complement)-like 2, complement factor H-related 1
Location: 1q31.3: 196819731 - 196837159 (+)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.828000 | pLI: 0.00090932 | LOEUF: 1.530
Normal function
Dysfunction and disease
{Macular degeneration, age-related, reduced risk of} [MIM:603075] | {Hemolytic uremic syndrome, atypical, susceptibility to} [MIM:235400] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
aHUS1b |
Hemolytic-uremic syndrome, atypical, susceptibility to, 1 | AD/AR |
235400 |
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 CFHR1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000320493.10 | 1 | CCDS1386 | Select | protein_coding | 6 | Yes | 1297 | NM_001379306,NM_001379311,NM_002113 |
| 206 | ENST00000699454.1 | protein_coding | No | NM_001379307,NM_001379308,NM_001379309 | |||||
| 207 | ENST00000699455.1 | protein_coding | No | NM_001379310,NM_001379312 |
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 CFHR1
| ID | Year | Title | Journal | PMID | Variants |
|---|