IthaID: 4124



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS II-82 G>C HGVS Name: HBA2:c.301-61G>C
Hb Name: N/A Protein Info: N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
CAGAGGATCACGCGGGTTGCG [G>C] GAGGTGTAGCGCAGGCGGCGG (Strand: +)

Comments: The c.301-61G>C variant is an intron variant in the HBA2 gene, identified in a heterozygous state with mild anemia. The variant was identified through Sanger sequencing. It was published as HBA2:c.300+82G>C.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Anaemia [HP:0001903]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34274
Size: 1 bp
Located at: α2
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhang H, Wang Z, Yang Z, Chen X, Xu H, Zeng X, Yu Q, Kong L, Zhang R, Yi J, Wu J, Gan Y, Chen Y, Ye A, Wang Z, Zhang D, Han X, Du J, Dou Y, Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China., Hum Genomics, 19(1), 13, 2025 PubMed
Created on 2025-03-11 14:57:51, Last reviewed on 2025-03-11 14:59:19 (Show full history)

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