IthaID: 410
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 125 CTG>CAG [Leu>Gln] | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The missense variant CD125 CTG>CAG [Leu>Gln] was found on a chromosome that carries the -3.7 kb deletion (-α3.7). Not clear whether it occurred on the HBA2 or HBA1 gene, nor which of the various -α3.7 deletion types [SALSA MLPA Probemix P140 HBA]. Another study located the CD 125 CTG>CAG change in exon 3 of HBA2, named Hb Westeinde [IthaID: 736].
External Links
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: | N/A |
| Size: | 1 bp |
| Located at: | α1 or α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | Turkish Jewish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, Rund D, Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel., American journal of hematology, 65(3), 196-203, 2000
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-08 12:33:10 (Show full history)
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