IGLV11-55

immunoglobulin lambda variable 11-55 (non-functional), the group of Immunoglobulin lambda locus at 22q11.2

Basic information

Region (hg38): 22:22201663-22202161

Links

ENSG00000211641 ∙ NCBI:28770 ∙ ∙ HGNC:5886 ∙ Uniprot:A0A075B6I3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IGLV11-55 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGLV11-55 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: FCGR activation;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;FCERI mediated MAPK activation;FCERI mediated Ca+2 mobilization;Fc epsilon receptor (FCERI) signaling;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Initial triggering of complement;Classical antibody-mediated complement activation;Cell surface interactions at the vascular wall;Hemostasis;Regulation of actin dynamics for phagocytic cup formation;Regulation of Complement cascade;Creation of C4 and C2 activators;Complement cascade;FCERI mediated NF-kB activation;Role of LAT2/NTAL/LAB on calcium mobilization (Consensus)

Haploinsufficiency Scores

• ghis: 0.415

Gene ontology

• Biological process: immunoglobulin production;immune response
• Cellular component: extracellular space