IthaID: 4125
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 85 (-T) | HGVS Name: | HBB:c.258del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ACCTGGACAACCTCAAGGGCACCTT [T/-] GCCACACTGAGTGAGCTGCACTGT (Strand: -)
Comments: The c.258del variant is a frameshift variant in the HBB gene, identified in a heterozygous state with mild anemia. The variant was identified through Sanger sequencing.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | Anaemia [HP:0001903] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70982 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Zhang H, Wang Z, Yang Z, Chen X, Xu H, Zeng X, Yu Q, Kong L, Zhang R, Yi J, Wu J, Gan Y, Chen Y, Ye A, Wang Z, Zhang D, Han X, Du J, Dou Y, Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China., Hum Genomics, 19(1), 13, 2025 PubMed
Created on 2025-03-11 15:02:32,
Last reviewed on (Show full history)
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