IthaID: 141
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 38/39 (-CC) | HGVS Name: | HBB:c.117_118delCC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGGCTGCTGGTGGTCTACCCTTGGAC [-/CC] AGAGGTTCTTTGAGTCCTTTGGGG (Strand: -)
Also known as:
Comments: Deletion of the two nt CC generates a frameshift and a premature termination codon at codon 42 (TGA). Found as a heterozygote in members of a Belgian family.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70841 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Belgian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Heusterspreute M, Derclaye I, Gala JL, Van Geet C, Ferrant A, Malchaire Y, Thonnard J, Vaerman JL, Philippe M, Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation., Human genetics, 98(1), 77-9, 1996
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-07 12:59:49 (Show full history)
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