IthaID: 220


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-844 (C>G) HGVS Name: HBB:c.316-7C>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TCATGTTCATACCTCTTATCTTCCT [C/G] CCACAGCTCCTGGGCAACGTGCTGG (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++ (silent)
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71883
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV, Agosti S, Parodi MI, Cerruti P, Cao A, Pirastu M, Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations., Blood, 77(6), 1342-7, 1991
  2. Rosatelli MC, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, Fattore S, Cao A, Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype., British journal of haematology, 88(3), 562-5, 1994
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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