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

Context nucleotide sequence:

Also known as:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ+
Associated Phenotypes: N/A


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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
  3. Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-07-03 09:33:08 (Show full history)

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