IthaID: 4137
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 98 TTC>TT- | HGVS Name: | HBA2:c.297del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGGTGGACCCGGTCAACTT [C/-] AGGTGAGCGGCGGGCCGG (Strand: +)
Comments: The c.297del [p.Phe99fs] variant results in the deletion of a single cytosine (C) at codon 98 of the HBA2 gene, causing a frameshift that introduces a premature stop codon (TAA) at codon 101. This variant was identified in an individual who was also heterozygous for the Hb Adana variant. The patient's hemoglobin level at diagnosis (pre-transfusion) was 6.3 g/dL. Hemoglobin analysis was suggestive of Hb H disease.
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: | 34189 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Abdul Hamid, Faidatul Syazlin | 2025-03-12 |
Created on 2025-03-12 14:06:53,
Last reviewed on 2025-03-12 14:08:00 (Show full history)
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