IthaID: 3071
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --235 | HGVS Name: | NC_000016.10:g.10001_185264del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: --175
Comments: The deletion involves the entire α-globin gene cluster. It starts from the telomere (position 60001 bp) to a downstream breakpoint localised to position 235,263 bp (GRCh37.p13). According to the telomere starting site, the duplication spans a smaller region of 175 kb. Heterozygosity for this deletion associated with one functioning α-globin gene, explaining the severe anemia phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X, Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families., Mol. Genet. Genomics , 291(3), 1443-50, 2016
Created on 2016-09-06 17:44:26,
Last reviewed on 2021-06-25 11:24:34 (Show full history)
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