IthaID: 199


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-1 (-G) HGVS Name: HBB:c.315+1delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GCACGTGGATCCTGAGAACTTCAGG [G/-] TGAGTCTATGGGACGCTTGATGTTT (Strand: -)

Also known as:

Comments: Found in a heterozygous state with mild anaemia in a German Caucasian family of Huguenot descent. Presented with thalassaemia intermedia in a proband with alpha-globin triplication. Absence of aberrant or unstable haemoglobin (Hb) fraction in biochemical Hb analyses.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Dominant
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71040
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Lahr G, Brintrup J, Over S, Feurle GE, Debatin KM, Kohne E, Codon 104(-G), a dominant beta0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors., Haematologica , 92(9), 1264-5, 2007
Created on 2010-06-16 16:13:15, Last reviewed on 2021-12-06 09:22:52 (Show full history)

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