IthaID: 363

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS I-116 GCAGGA>GCGGGA acceptor HGVS Name: HBA2:c.96-2A>G
Hb Name: N/A Protein Info: α2 nt 248 A>G

Context nucleotide sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33986
Size: 1 bp
Located at: α2
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: North European, Dutch, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Heister JG, Giordano PC, Batelaan D, von Delft P, Haak HL, Wijermans PW, Losekoot M, Bernini LF, An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families., British journal of haematology, 95(3), 461-6, 1996 PubMed
  2. He XH, Zhang R, Mai GX, Ren LR, Li DZ, First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene., Hemoglobin, 42(0), 344-346, 2018 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-08-25 12:41:33 (Show full history)

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