IthaID: 268


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: 3'UTR +47 C>G HGVS Name: HBB:c.*47C>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTTCTATTAAAGGTTCCTTTGTTCC [C/G] CTATTAAAGGTTCCTTTGTTCCTAT (Strand: -)

Also known as: Terminal CD +47 C>G

Comments: Found in a Middle Eastern (Armenian) case in compound heterozygosity with IVS I-130 G>C [IthaID:118], presented with mild β-Thalassaemia intermedia phenotype.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: 72065
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Other 3'UTR site (mRNA Processing)
Ethnic Origin: Armenian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL, Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype?, Br J Haematol, 100(1), 70-8, 1998
  2. Thein SL, Beta-thalassaemia., Baillieres Clin Haematol, 11(1), 91-126, 1998
Created on 2010-06-16 16:13:15, Last reviewed on 2022-05-17 16:15:18 (Show full history)

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