IthaID: 4176
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 129-131 (-TGGCTTC, +AGGTAT) | HGVS Name: | HBA1:c.389_395delinsAGGTAT |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACGCCTCCCTGGACAAGTTCC [TGGCTTC/AGGTAT] TGTGAGCACCGTGCTGACCTCC (Strand: +)
Comments: Identified in a proband in compound heterozygosity with the –SEA deletion (IthaID: 309), leading to Hb H disease. Haemoglobin analysis demonstrated the presence of Hb H and Hb Bart’s.
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: | 38234 |
| Size: | 7 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Zhuang, Jianlong | 2025-12-10 | First report. |
Created on 2025-12-22 14:14:13,
Last reviewed on 2025-12-23 06:47:34 (Show full history)
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