IthaID: 3066



Names and Sequences

Functionality: Neutral polymorphism
Common Name: IVS I-108 T>C HGVS Name: HBB:c.93-23T>C

Context nucleotide sequence:
GATAGGCACTGACTCTCTCTGCCTA [C>T] TGGTCTATTTTCCCACCCTTAGGCT (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70794
Size: 1 bp
Located at: β
Specific Location: Intron 1

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing)
Ethnic Origin: Iranian, European, Cuban
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Badens C, Jassim N, Martini N, Mattei JF, Elion J, Lena-Russo D, Characterization of a new polymorphism, IVS-I-108 (T-->C), and a new beta-thalassemia mutation, -27 (A-->T), discovered in the course of a prenatal diagnosis., Hemoglobin, 23(4), 339-44, 1999 PubMed
  2. Muñiz A, Martinez G, Lavinha J, Pacheco P, Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean., Am. J. Hematol. , 64(1), 7-14, 2000 PubMed
  3. Boussiou M, Karababa P, Sinopoulou K, Tsaftaridis P, Plata E, Loutradi-Anagnostou A, The molecular heterogeneity of beta-thalassemia in Greece., Blood Cells Mol. Dis. , 40(3), 317-9, 2008 PubMed
  4. Vinciguerra M, Cassarà F, Cannata M, Renda D, Calvaruso G, Leto F, Passarello C, Maggio A, Giambona A, Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene., J. Clin. Pathol. , 2017 PubMed
Created on 2016-09-06 13:05:38, Last reviewed on 2017-09-06 11:13:54 (Show full history)

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