IthaID: 108
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-5 (G>T) | HGVS Name: | HBB:c.92+5G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGTGGTGAGGCCCTGGGCAGGTTG [A/C/G/T] TATCAAGGTTACAAGACAGGTTTAA (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70691 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| Ethnic Origin: | Mediterranean, N European |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Atweh GF, Wong C, Reed R, Antonarakis SE, Zhu D, Ghosh PK, Maniatis T, Forget BG, Kazazian HH, A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing., Blood, 70(1), 147-51, 1987
- Eigel A, Schnee J, Oehme R, Horst J, Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron., Human genetics, 81(4), 371-2, 1989
Created on 2010-06-16 16:13:14,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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