IthaID: 17



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -50 G>A HGVS Name: HBB:c.-100G>A
Hb Name: N/A Protein Info: β nt -50 G>A

Context nucleotide sequence:
CAATCTACTCCCAGGAGCAGGGAGG [A/G] CAGGAGCCAGGGCTGGGCATAAAAG (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:Unclear
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70495
Size: 1 bp
Located at: β
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li DZ, Liao C, Xie XM, Zhou JY, A novel mutation of -50 (G-->A) in the direct repeat element of the beta-globin gene identified in a patient with severe beta-thalassemia., Annals of hematology, 88(11), 1149-50, 2009 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-01-16 12:56:49 (Show full history)

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