IthaID: 4044
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 87-91 (-14 bp) | HGVS Name: | HBB:c.263_276del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Reported in a heterozygote with: HGB 78g/L,MCV 73.8fL, MCH 22.5pg, Hb A2 4.7%
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70987 |
| Size: | 14 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| 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
- 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 15:12:14,
Last reviewed on (Show full history)
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