IthaID: 350

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 18 GGC>G-C HGVS Name: HBA2:c.56delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: The deletion of nt G at codon 18 (GGC) causes a frameshift resulting in a premature stop codon at codon 48 (TGA).

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: 33831
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Azerbaijani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction


Publications / Origin

  1. Aliyeva G, Asadov C, Mammadova T, Gafarova S, Guliyeva Y, Abdulalimov E, Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations., Ann. Hum. Genet., 2019
Created on 2010-06-16 16:13:15, Last reviewed on 2020-04-21 19:32:31 (Show full history)

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