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
- 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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