LRBA Chromosome 4

LPS responsive beige-like anchor protein
170 variants 170 Health Risk

Upload your DNA to see your personal genotypes for variants in LRBA.

What This Gene Does
The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
"WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000198589
Associated Conditions (13)
Combined immunodeficiency due to LRBA deficiency
LRBA-related disorder
Inborn genetic diseases
Acute myeloid leukemia
Hirschsprung disease
susceptibility to
1
Ovarian serous cystadenocarcinoma
Cholangiocarcinoma
Cervical cancer
See cases
Inherited Immunodeficiency Diseases
Severe combined immunodeficiency due to CORO1A deficiency
Key Variants
RS112952572
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS114610541
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Inborn genetic diseases
Health Risk
RS116355217
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS116526975
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS138220755
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Acute myeloid leukemia, Inborn genetic diseases
Health Risk
RS138428438
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS138956153
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS139093792
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS140629626
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
Health Risk
RS140666848
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 1
Health Risk
RS140860135
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases, LRBA-related disorder
Health Risk
RS142598024
Conflicting classifications of pathogenicity
Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases, Combined immunodeficiency due to LRBA deficiency
Health Risk
All Variants (170)
RSID Category Clinical Significance Conditions
RS79392371 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Combined immunodeficiency due to LRBA deficiency
RS1171694504 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1181595292 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1302362911 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1350061017 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1353022856 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1404249010 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1425262198 Health Risk Likely pathogenic LRBA-related disorder, LRBA-related disorder
RS1439160668 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1553956151 Health Risk Likely pathogenic —
RS1553965868 Health Risk Likely pathogenic —
RS1553996145 Health Risk Likely pathogenic —
RS1561254290 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1579059727 Health Risk Likely pathogenic —
RS1580974401 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1729842757 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1730552437 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1750245794 Health Risk Likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Combined immunodeficiency due to LRBA deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS2126458818 Health Risk Likely pathogenic —
RS2126905499 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127004616 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127009232 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127154945 Health Risk Likely pathogenic —
RS2149489382 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2149508421 Health Risk Likely pathogenic —
RS2152104087 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2545893534 Health Risk Likely pathogenic —
RS2545893731 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546422057 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546490347 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546534919 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546552538 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546559508 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546646309 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546693049 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2547164192 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2547165271 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2547368576 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS532289025 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder, Combined immunodeficiency due to LRBA deficiency
RS727503779 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS747652653 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS755373718 Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1032290659 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1051619342 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1209551499 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1268711491 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1297757024 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1319094744 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1320366310 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1323477178 Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
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