IthaID: 109



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS I-5 (G>A) HGVS Name: HBB:c.92+5G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGGTGGTGAGGCCCTGGGCAGGTTG [A/C/G/T] TATCAAGGTTACAAGACAGGTTTAA (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: 70691
Size: 1 bp
Located at: β
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: Mediterranean, Algerian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Lapoumeroulie C, Pagnier J, Bank A, Labie D, Krishnamoorthy R, Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site., Biochemical and biophysical research communications, 139(2), 709-13, 1986 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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