Preferred Label : BCL11A NC_000002.12:g.60490908 ;
NCIt synonyms : ZNF856 c.386-22075 ; BCL11A NM_022893.4:c.386-22075 ; EVI9 c.386-22075 ; BAF Chromatin Remodeling Complex Subunit BCL11A c.386-22075 ; SMARCM1 c.386-22075 ; CTIP1 c.386-22075 ; NG_011968.1:g.67591 ; B Cell CLL/Lymphoma 11A c.386-22075 ; BCL11A c.386-22075G T; BCL11A c.386-22075 ; NM_022893.4:c.386-22075 ;
NCIt related terms : BCL11A - rs1427407 G T;
NCIt definition : A nucleotide substitution on chromosome 2 at genomic position 60490908 located within
intron 2 of the BCL11A gene where thymine is present instead of guanine.;
NCIt note : For the BCL11A gene, thymine at this position is the most frequent allele across all
demographics; however, the guanine allele maybe associated with lower fetal hemoglobin
levels in patients with sickle cell disease. (Blood Cells Mol Dis. 2015;54:4-8. doi:
10.1016/j.bcmd.2014.10.003);
NCI Metathesaurus CUI : CL1773747;
SNP ID : rs1427407;
PubMed : 25457385;
Origin ID : C185441;
UMLS CUI : C5575592;
Semantic type(s)
- molecular_abnormality_involves_gene
