IthaID: 3862


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 125 (+C) HGVS Name: HBA2:c.376dupC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGTTCACCCCTGCGGTGCACGCCTCC [-/C] TGGACAAGTTCCTGGCTTCTGTGAGC (Strand: +)

Also known as:

Comments: Found in a 24-year-old female through thalassaemia screening at routine pregnancy examination with normal phenotype. The frameshift mutation results in an altered and elongated protein.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34410
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Liu L, Sun Y, Chen S, Yu C, Cao P, Sun J, Peng Z, Mao P, Identification of Two Novel Thalassemia Variants, : c.263delA and : c.376dupC, in Chinese Individuals., Hemoglobin, 45(1), 49-51, 2021
Created on 2021-09-24 11:37:25, Last reviewed on 2022-08-24 09:21:27 (Show full history)

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