IthaID: 345
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;Init CD ATG>GTG | HGVS Name: | NG_000006.1:g.[33776A>G;34247_38050del] |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Inititiation codon ATG>GTG change found on a chromosome that carries the -3.7 kb deletion (-α3.7). HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.
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: | 33776 or 34247 |
| Size: | 1 bp or 3.804 kb |
| Located at: | α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH, An alpha-globin gene initiation codon mutation in a black family with HbH disease., Blood, 70(3), 729-32, 1987
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-08 10:46:52 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.