IthaID: 4070
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 68 (-C) | HGVS Name: | HBA2:c.207del |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGAAGGTGGCCGACGCGCTGACCAA [C/-] GCCGTGGCGCACGTGGACGACATGC (Strand: +)
Also known as:
Comments: Found in a 31-year-old Chinese male presented with mild microcytosis (Hb 15.3g/dL, MCV 77.7 fL, MCH 25.7 pg, RBC 5.94×10^12/L).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External 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: | 34099 |
| Size: | 1 bp |
| Located at: | α2 |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Wei | 2023-09-07 | First report. |
Created on 2023-09-27 15:30:16,
Last reviewed on 2024-01-22 12:21:34 (Show full history)
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