IthaID: 101
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-1 G>A | HGVS Name: | HBB:c.92+1G>A |
| Hb Name: | N/A | Protein Info: | β nt 143 G>A |
Context nucleotide sequence:
AAGTTGGTGGTGAGGCCCTGGGCAG [A/G/T] TTGGTATCAAGGTTACAAGACAGGT (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: | 70687 |
| 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: | Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ, Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster., Nature, 296(5858), 627-31, 1982
- 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
- Baysal E, Indrak K, Bozkurt G, Berkalp A, Aritkan E, Old JM, Ioannou P, Angastiniotis M, Droushiotou A, Yüregir GT, The beta-thalassaemia mutations in the population of Cyprus., British journal of haematology, 81(4), 607-9, 1992
- Benito A, Villegas A, Perez-Cano R, Bernal R, Beta-thalassaemia in south-western Spain: high frequency of G-->A (IVS I-1) mutation., Br. J. Haematol. , 92(2), 336-8, 1996
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-05-14 16:42:45 (Show full history)
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