IthaID: 2178
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -88 C>G | HGVS Name: | HBB:c.-138C>G |
| Hb Name: | N/A | Protein Info: | β nt -88 C>G |
Context nucleotide sequence:
TTAGACCTCACCCTGTGGAGCCACA [C>G] CCTAGGGTTGGCCAATCTACTCCCA (Strand: -)
Also known as:
Comments: Carriers of this beta-thalassemia are clinically asymptomatic.
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: | 70457 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | British, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
- Li W, Chen LT, Yu Y, Wang J, Li CY, Cai TE, Lu CJ, Li DX, Tian XJ, [Molecular genetic characteristics of a family which coinheritance of rare-88 C>G () β-thalassemia mutation with α-thalassemia and review of the literature]., Zhonghua Yu Fang Yi Xue Za Zhi, 57(2), 253-258, 2023
Created on 2013-09-30 15:54:02,
Last reviewed on 2023-03-20 16:45:12 (Show full history)
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