IthaID: 4046
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-337 A>G | HGVS Name: | HBB:c.315+337A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTTACACAGTCTGCCTAGTACATTACT [A>G] TTTGGAATATATGTGTGCTTATTTGCA (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71376 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liu Q, Chen Q, Zhang Z, Peng S, Liu J, Pang J, Jia Z, Xi H, Li J, Chen L, Liu Y, Peng Y, Identification of rare thalassemia variants using third-generation sequencing., Front Genet, 13(0), 1076035, 2022
Created on 2023-07-04 14:15:44,
Last reviewed on 2023-07-04 14:17:18 (Show full history)
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