IthaID: 4043

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS I-57 C>T HGVS Name: HBA2:c.95+7C>T
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Reported in a heterozygote with: HGB 105g/L, MCV 72.5fL, MCH 22pg, Hb A2 2.2%

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33877
Size: 1 bp
Located at: α2
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Xian J, Wang Y, He J, Li S, He W, Ma X, Li Q, Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China., Clin Appl Thromb Hemost, 28(0), 10760296221119807, 2022
Created on 2023-06-30 15:10:58, Last reviewed on 2023-06-30 15:18:37 (Show full history)

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