Information on FCGR3A
Basic details
Alt. symbols: FCGR3 | FCG3 | CD16 | CD16a
Approved name: Fc gamma receptor IIIa
Alt. names: Fc fragment of IgG, low affinity IIIa, receptor for (CD16), Fc fragment of IgG, low affinity IIIa, receptor (CD16a) | Fc gamma receptor IIIa
Location: 1q23.3: 161541759 - 161550968 (-)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.990000 | pLI: 0.00001223 | LOEUF: 1.496
Normal function
Dysfunction and disease
Immunodeficiency 20 [MIM:615707] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD20 |
Immunodeficiency 20 | AR |
615707 |
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 FCGR3A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000436743.7 | 1 | CCDS44266 | protein_coding | 6 | No | 2093 | NM_001127593 | |
| 202 | ENST00000426740.8 | protein_coding | 5 | No | 2081 | NM_001127592 | |||
| 201 | ENST00000367967.8 | CCDS44266 | protein_coding | 6 | No | 2086 | NM_001127595 | ||
| 205 | ENST00000443193.6 | CCDS44266 | Select | protein_coding | 5 | Yes | 2100 | NM_000569 | |
| 207 | ENST00000699395.1 | protein_coding | No | NM_001329122 | |||||
| 209 | ENST00000699397.1 | protein_coding | No | NM_001329120 | |||||
| 212 | ENST00000699400.1 | protein_coding | No | NM_001127596,NM_001386450 |
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 FCGR3A
| ID | Year | Title | Journal | PMID | Variants |
|---|