present in Gene: HBB
present in Chromosome: 11
Position on Chromosome: 5226774
Alleles of this Variant: G/A;C;T
rs11549407 in
HBB gene and
beta Thalassemia
PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
PMID 25572186 2015 Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain.
PMID 23321370 2013 The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.
PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.
PMID 1734721 1992 Molecular characterization of beta-thalassemia in the Sardinian population.
PMID 21417574 2011 A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).
PMID 22271886 2012 Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.
PMID 21389146 2011 Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.
PMID 6457059 1981 beta zero thalassemia in Sardinia is caused by a nonsense mutation.