IthaID: 319
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --MA | HGVS Name: | NG_000006.1:g.18964_39864del20901 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 18964 |
| Size: | 20.901 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Gonzalez-Redondo JM, Gilsanz F, Ricard P, Characterization of a new alpha-thalassemia-1 deletion in a Spanish family., Hemoglobin, 13(2), 103-16, 1989
- Villegas A, Sánchez J, Carreño DL, Ropero P, González FA, Espinós D, Peñalver MA, Lozano M, Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation)., Am. J. Hematol. , 49(4), 294-8, 1995
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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