Variant: rs750610248 

    present in Gene: BCL11B
    present in Chromosome: 14
    Position on Chromosome: 99175513
    Alleles of this Variant: A/C;G

rs750610248 in BCL11B gene and Agenesis of corpus callosum PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

rs750610248 in BCL11B gene and Combined immunodeficiency PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

rs750610248 in BCL11B gene and IMMUNODEFICIENCY 49 PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

PMID 29985992 2018 BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.