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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGTGGGGCAAGGTGAACGTGG [-/G] ATGAAGTTGGTGGTGAGGCCC (Strand: -)
Comments: Found in an Ashkenazi beta-thalassaemia carrier originating from Bellorussia (Minsk).
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
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
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-11-12 15:28:54 (Show full history)
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