IthaID: 119
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-130 (G>A) | HGVS Name: | HBB:c.93-1G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTATTGGTCTATTTTCCCACCCTTA [A/C/G] GCTGCTGGTGGTCTACCCTTGGACC (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 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70816 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Egyptian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Deidda G, Novelletto A, Hafez M, al-Tonbary Y, Felicetti L, Terrenato L, Colombo B, A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA)., Hemoglobin, 14(4), 431-40, 1990
- Oner R, Altay C, Gurgey A, Aksoy M, Kilinç Y, Stoming TA, Reese AL, Kutlar A, Kutlar F, Huisman TH, Beta-thalassemia in Turkey., Hemoglobin, 14(1), 1-13, 1990
Created on 2010-06-16 16:13:14,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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