IthaID: 212

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-705 (T>G) HGVS Name: HBB:c.316-146T>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71744
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Dobkin C, Pergolizzi RG, Bahre P, Bank A, Abnormal splice in a mutant human beta-globin gene not at the site of a mutation., Proceedings of the National Academy of Sciences of the United States of America, 80(5), 1184-8, 1983 PubMed
  2. Jiang F, Chen GL, Zhou JY, Li DZ, First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family., Hemoglobin, 41(0), 286-287, 2017 PubMed
  3. Murad H, Moassas F, First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family., Hemoglobin, 43(1), 66-68, 2019 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-08-26 11:29:18 (Show full history)

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