IthaID: 121
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I [3' end] (-17 bp) | HGVS Name: | HBB:c.93-17_93-1delTATTTTCCCACCCTTAG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CACTGACTCTCTCTGCCTATTGGTC [-/TATTTTCC] GCTGCTGGTGGTCTACCCTTGGACC (Strand: -)
Also known as: 17 bp deletion
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: | 70800 |
| Size: | 17 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Kuwaiti |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Kazazian HH, Boehm CD, Molecular basis and prenatal diagnosis of beta-thalassemia., Blood, 72(4), 1107-16, 1988
Created on 2010-06-16 16:13:14,
Last reviewed on 2013-10-31 18:13:39 (Show full history)
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