IthaID: 207
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS II 4/5 -AG | HGVS Name: | NG_000007.3:g.71043_71044delAG |
| Hb Name: | N/A | Protein Info: | β nts 499 - 500 deleted |
Context nucleotide sequence:
CGTGGATCCTGAGAACTTCAGGGTG [-/AG] TCTATGGGACGCTTGATGTTTTCTT (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 Dominant |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71043 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
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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Frequencies
Publications / Origin
- Faustino P, Osório-Almeida L, Barbot J, Espírito-Santo D, Gonçalves J, Romão L, Martins MC, Marques MM, Lavinha J, Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population., Human genetics, 89(5), 573-6, 1992 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-04-25 12:10:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-08 14:34:19 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-04-08 14:35:16 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2018-04-25 12:10:28 | The IthaGenes Curation Team | Reviewed. HGVS name corrected |
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IthaGenes was last updated on 2024-11-20 13:24:07