Information on IGLL1
Basic details
Alt. symbols: IGLL | IGVPB | IGL5 | 14.1 | CD179B
Approved name: immunoglobulin lambda like polypeptide 1
Alt. names: immunoglobulin lambda-like polypeptide 1 | lambda 5
Location: 22q11.23: 23573125 - 23580302 (-)
Gene type: protein_coding, 3 transcripts.
Scores: LoFtool: | pLI: 0.01716774 | LOEUF: 1.643
Normal function
Dysfunction and disease
Agammaglobulinemia 2 [MIM:613500] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
AGM2 |
Agammaglobulinemia 2 | AR |
613500 |
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 IGLL1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000249053.3 | CCDS13810 | protein_coding | 2 | No | 716 | NM_152855 | ||
| 202 | ENST00000330377.3 | 1 | CCDS13809 | Select | protein_coding | 3 | Yes | 883 | NM_001369906,NM_020070 |
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 | - | NM_020070.3: EX2-3 (90-98%) |
| - | 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 IGLL1
| ID | Year | Title | Journal | PMID | Variants |
|---|