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
Publications / Origin
- 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
Created on 2025-03-11 14:57:51,
Last reviewed on 2025-03-11 14:59:19 (Show full history)
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