IthaID: 121


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I [3' end] (-17 bp) HGVS Name: HBB:c.93-17_93-1delTATTTTCCCACCCTTAG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CACTGACTCTCTCTGCCTATTGGTC [-/TATTTTCC] GCTGCTGGTGGTCTACCCTTGGACC (Strand: -)

Also known as: 17 bp deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70800
Size: 17 bp
Located at: β
Specific Location: Intron 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Kuwaiti
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Kazazian HH, Boehm CD, Molecular basis and prenatal diagnosis of beta-thalassemia., Blood, 72(4), 1107-16, 1988
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-31 18:13:39 (Show full history)

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