IthaID: 3866
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-659_664 (-GCAATA) | HGVS Name: | HBB:c.316-192_187del |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTTCTGGGTTAAGGCAATA [GCAATA /-] TCTCTGCATATAAATATTTC (Strand: -)
Also known as:
Comments: Found in a 60-year-old female in compound heterozygosity with Hb G-Taipei [IthaID:877] with no clinical presentation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 71698 |
| Size: | 6 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing) |
| 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To the best of our knowledge, this is unpublished data.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, Youqiong | 2021-09-29 | First report. |
Created on 2021-09-30 12:11:48,
Last reviewed on 2022-09-16 09:49:30 (Show full history)
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