IthaID: 4089
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CAP +32 (G>C) | HGVS Name: | HBB:c.-19G>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCTTCTGACACAACTGTGTTCACTA [G>C] CAACCTCAAACAGACACCATGGTGC (Strand: -)
Also known as:
Comments: Found together with the c.315+1G>A variant in a case with thalassemia intermedia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 70576 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Jalali H, Mahdavi M, Eslamijouybari M, Mahdavi MR, Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the -Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran., Case Rep Genet, 2023(0), 9950421, 2023
Created on 2023-12-19 15:37:25,
Last reviewed on (Show full history)
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