IGLL1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IGLL1 (HGNC:5870) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
immunoglobulin lambda like polypeptide 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
IGLL
Alias symbols
IGVPB, IGL5, 14.1, CD179B
%HI
81.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.84(Read more about gnomAD LOEUF score)
Cytoband
22q11.23
Genomic Coordinates
GRCh37/hg19: chr22:23915312-23922477 NCBI Ensembl UCSC
GRCh38/hg38: chr22:23573125-23580290 NCBI Ensembl UCSC
MANE Select Transcript
NM_020070.4 ENST00000330377.3 (Read more about MANE Select)
Function
Critical for B-cell development. {ECO:0000269|PubMed:9419212}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34670
ClinGen Curation ID:
CCID:007319
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • agammaglobulinemia 2, autosomal recessive Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)