IthaID: 4042
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-2 (-8 bp, +1 bp) | HGVS Name: | HBA1:c.301-31_301-24delinsG |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Reported in a heterozygote with: HGB 103g/L, MCV 67fL, MCH 19.4pg, Hb A2 2.1%
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38115 |
| Size: | 8 bp |
| Located at: | α1 |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| 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
- 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 15:09:31,
Last reviewed on (Show full history)
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