IthaID: 13



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -86 C>G HGVS Name: HBB:c.-136C>G
Hb Name: N/A Protein Info: β nt -86 C>G

Context nucleotide sequence:
AGACCTCACCCTGTGGAGCCACACC [A/C/G] TAGGGTTGGCCAATCTACTCCCAGG (Strand: -)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70459
Size: 1 bp
Located at: β
Specific Location: Promoter 0

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Thai, Lebanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Kazazian HH, The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990., Seminars in hematology, 27(3), 209-28, 1990 PubMed
  2. Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ, The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis., American journal of human genetics, 47(3), 369-75, 1990 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-04-28 17:51:39 (Show full history)

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