IthaID: 3686
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | IVS II-672 (A>C) | HGVS Name: | HBB:c.316-179A>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CAGTGATAATTTCTGGGTTAAGGCAATAGCAATATCTCTGC [A/C] TATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAGG (Strand: +)
Also known as:
Comments: Found in two individuals, a Chinese female and a Malay male. The 71-year-old female presented with severe decreased levels of MCV (63 fL) and MCH (19.3 pg). The 27-year-old male presented with mild decreased levels of MCV (76.8 fL) and MCH (26.1 pg) but with elevated Hb A2 (3.8 %).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 71711 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Malay, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
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To the best of our knowledge, this is unpublished data.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 | Mohd Yasin, Norafiza | 2020-10-20 | First report. |
Created on 2020-10-27 14:13:51,
Last reviewed on 2023-03-07 13:02:58 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-10-27 14:13:51 | The IthaGenes Curation Team | Created |
| 2 | 2020-10-27 14:14:31 | The IthaGenes Curation Team | Reviewed. Contributor added. |
| 3 | 2023-03-07 13:02:58 | The IthaGenes Curation Team | Reviewed. Link added |
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IthaGenes was last updated on 2024-11-20 13:24:07