IthaID: 3883

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS I-1 G>C HGVS Name: HBD:c.92+1G>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in a heterozygous state. This mutation likely activates a cryptic acceptor site (actttttctcagCT) at exon 2 (c.253) with a HSF score of 87.41. In this case, the reported mutation would produce an abnormal mRNA resulting in reduced HbA2 level. There may be some possibility that in IVS Ӏ-1 G>C, exon 1 joins directly to exon 3 by removing IVS Ӏ, exon 2, and IVS ӀӀ by splicing.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63275
Size: 1 bp
Located at: δ
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Tunisian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A, Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations., Mol Biol Rep, 48(8), 5923-5933, 2021 PubMed
Created on 2021-12-29 15:38:15, Last reviewed on (Show full history)

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