IthaID: 2576
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 68 AAC>A-C | HGVS Name: | HBA2:c.206delA |
| Hb Name: | N/A | Protein Info: | α2 68(E17) Asn>Thr fs*16 |
Context nucleotide sequence:
CAAGAAGGTGGCCGACGCGCTGACCA [A/-] CGCCGTGGCGCACGTGGACGACAT (Strand: +)
Also known as:
Comments: This is an α+-thalassaemia mutation, no abnormal haemoglobin is visible on HPLC or CE. It was found in heterozygous form in a Dutch woman of presumably Asian origin (Surinamese-Indonesian).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 34098 |
| 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: | Surinamese, Indonesian |
| 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To the best of our knowledge, this is unpublished data.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 | L. Harteveld, Cornelis | 2016-03-02 | First report. |
Created on 2016-05-06 14:37:51,
Last reviewed on 2022-09-21 12:50:30 (Show full history)
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