IthaID: 1324
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -68 (C>T) | HGVS Name: | HBD:c.-118C>T |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCTCCCTGCTCCAGTGAGCAGGTTG [A/G] TTTAAGATAAGCAGGGTTTCATTAG (Strand: +)
Comments: SNP associated with δ-thalassaemia. SNP was found in sickle cell anaemia patients with the Saudi-Indian (SI) or Arab-Indian (AI) haplotype and high HbF levels. There is no evidence that this SNP regulates HBG expression.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63065 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Bouva MJ, Harteveld CL, van Delft P, Giordano PC, Known and new delta globin gene mutations and their diagnostic significance., Haematologica, 91(1), 129-32, 2006
- Phylipsen M, Gallivan MV, Arkesteijn SG, Harteveld CL, Giordano PC, Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics., Int J Lab Hematol , 33(1), 85-91, 2011
- Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-07-03 09:33:08 (Show full history)
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