IthaID: 31


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -27 (-AA) HGVS Name: HBB:c.-77_-76delAA
Hb Name: N/A Protein Info: β nts -27 - -26 deleted

Context nucleotide sequence:
GGGCAGGAGCCAGGGCTGGGCATAA [-/AA] GTCAGGGCAGAGCCATCTATTGCTT (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: 70518
Size: 1 bp
Located at: β
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: N/A
Molecular mechanism: TATAA box (HBB)
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Eng B, Walker L, Nakamura LM, Hoppe C, Azimi M, Lee H, Waye JS, Three new beta-globin gene promoter mutations identified through newborn screening., Hemoglobin, 31(2), 129-34, 2007
Created on 2010-06-16 16:13:14, Last reviewed on 2014-03-12 15:40:17 (Show full history)

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