IthaID: 98

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg] HGVS Name: HBB:c.91A>C
Hb Name: N/A Protein Info: β 30(B12) Arg>Arg

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: 70685
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction


Publications / Origin

  1. Schmugge M, Waye JS, Basran RK, Zurbriggen K, Frischknecht H, THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele., Hemoglobin, 32(3), 303-7, 2008
Created on 2010-06-16 16:13:14, Last reviewed on 2014-04-08 14:23:19 (Show full history)

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