IthaID: 35
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CAP +8 (C>T) | HGVS Name: | HBB:c.-43C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β++ (silent) |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70552 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Ma SK, Ha SY, Chan AY, Chan GC, Lau YL, Chan LC, Two novel beta-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8 (C-->T) beta-globin gene mutations., Hemoglobin, 24(4), 327-32, 2000
- Van de Water N, Tan T, Chan G, Cole N, Browett P, A +8 (-->CT) mutation within the 5' untranslated region of beta-globin down-regulates the mRNA transcription., Hemoglobin, 32(3), 247-53, 2008
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-10-20 | Report of an update. |
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-09-22 15:50:10 (Show full history)
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