IthaID: 23


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -30 (T>C) HGVS Name: HBB:c.-80T>C
Hb Name: N/A Protein Info: β nt -30 T>C

Context nucleotide sequence:
GGAGGGCAGGAGCCAGGGCTGGGCA [A/C/G/T] AAAAGTCAGGGCAGAGCCATCTATT (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70515
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: TATAA box (HBB)
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Cai SP, Zhang JZ, Doherty M, Kan YW, A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia., American journal of human genetics, 45(1), 112-4, 1989
Created on 2010-06-16 16:13:14, Last reviewed on 2014-04-08 11:49:19 (Show full history)

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