IthaID: 81
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 20/21 (+G) | HGVS Name: | HBB:c.64dupG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGTGGGGCAAGGTGAACGTGG [-/G] ATGAAGTTGGTGGTGAGGCCC (Strand: -)
Also known as:
Comments: Found in an Ashkenazi beta-thalassaemia carrier originating from Bellorussia (Minsk).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70658 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Ashkenazi Jewish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| 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
- Oppenheim A, Oron V, Filon D, Fearon CC, Rachmilewitz EA, Kazazian HH, Rund D, Sporadic alleles, including a novel mutation, characterize beta-thalassemia in Ashkenazi Jews., Human mutation, 2(2), 155-7, 1993 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-11-12 15:28:54 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-12 15:28:54 | The IthaGenes Curation Team | Reviewed. Mutation names and Location corrected. Allele, Context sequence and Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07