IthaID: 64
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 9/10 (+T) | HGVS Name: | HBB:c.30dupT |
Hb Name: | Hb Gaziantep | Protein Info: | N/A |
Context nucleotide sequence:
GCATCTGACTCCTGAGGAGAAGTCT [-/T] GCCGTTACTGCCCTGTGGGGCAAGG (Strand: -)
Also known as:
Comments: Found in members of a Greek family, as a heterozygote in the father and in combination with a β+-thal mutation (HBB:c.93-21G>A) in his son. Found in combination with a β0-thal mutation (HBB:c.118C>T) in a Turkish patient presenting with a beta-thalassemia intermedia/major clinical picture.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
Allele Phenotype: | β0 |
Stability: | Hyperunstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70624 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Insertion) |
---|---|
Effect on Gene/Protein Function: | Frameshift (Translation) |
Ethnic Origin: | Greek, Arab, Turkish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- Waye JS, Eng B, Olivieri NF, Chui DH, Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis., Prenatal diagnosis, 14(10), 929-32, 1994 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-11-13 16:51:04 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2019-06-11 16:51:03 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy type corrected. HbVar link, Synonym HGVS name, Protein name, Ethnic origin and Allele phenotype added. |
4 | 2019-11-13 16:51:04 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Comment added. |
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IthaGenes was last updated on 2024-09-28 12:00:32