IthaID: 39
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CAP +33 (C>G) | HGVS Name: | HBB:c.-18C>G |
| Hb Name: | N/A | Protein Info: | β nt 33 C>G |
Context nucleotide sequence:
CTTCTGACACAACTGTGTTCACTAG [C/G] AACCTCAAACAGACACCATGGTGCA (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++ (silent) |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70577 |
| 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: | Greek Cypriot |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Ho PJ, Rochette J, Fisher CA, Wonke B, Jarvis MK, Yardumian A, Thein SL, Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families., Blood, 87(3), 1170-8, 1996
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-04-08 12:02:49 (Show full history)
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