IthaID: 3616
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-809 (-G) | HGVS Name: | HBB:c.316-42delG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCC [G/-] TTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCA (Strand: -)
Also known as:
Comments: Found in a pregnant Italian woman in compound heterozygosity with IVS-II-745 (C>G) [IthaID:214] with near normal hematological indices. The intronic 1-bp deletion was also identified in the fetus.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71848 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Vinciguerra M, Cannata M, Cassarà F, Passarello C, Leto F, Calvaruso G, Renda D, Maggio A, Giambona A, HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene., Hemoglobin, 41(0), 234-238, 2017
Created on 2020-08-14 09:41:31,
Last reviewed on (Show full history)
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