Preferred Label : HBG2 NM_000184.2:c.-211C T;
NCIt synonyms : HBG2, C-T, -158; HBG2 c.-211C T; NG_000007.3:g.42677C T; NM_000184.2:c.-211C T; Ggamma -158C T; NG_042299.1:g.1053G A; Hemoglobin Subunit Gamma 2 c.-211C T; HBG2 XmnI C T Polymorphism; HBG2 Promoter SNP (g. -158C T); Hemoglobin, Gamma G c.-211C T; Xmn1-HBG2 SNP C T;
NCIt related terms : HBG2 (XmnI) - rs7482144 C T;
NCIt definition : A nucleotide substitution at position -211 in the upstream promoter region of the
HBG2 gene where cytosine has been mutated to thymine.;
NCIt note : This gene variant is associated with fetal hemoglobin quantitative trait locus 1 (HBFQTL1).;
NCI Metathesaurus CUI : CL1773749;
SNP ID : rs7482144;
Origin ID : C185439;
UMLS CUI : C5669902;
Semantic type(s)
- molecular_abnormality_involves_gene
