IthaID: 3031
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS II-1 G>A | HGVS Name: | HBA1:c.300+1G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTCGGGTGGACCCGGTCAACTTCAAG [G>A] TGAGCGGCGGGCCGGGAGCGATCT (Strand: +)
Also known as:
Comments: Patient presented with hypochromic haemolytic anaemia, resulting from abnormal RNA splicing sites owing to a missense at the splice donor site.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37997 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, Rad F, Imanian H, Azarkeivan A, Najmabadi H, Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene., Hemoglobin , 40(1), 38-43, 2016
Created on 2016-08-26 13:03:40,
Last reviewed on (Show full history)
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