IthaID: 3431
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | IVS I-38 C>T | HGVS Name: | HBA1:c.95+38C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CCCCTGCTCCGACCCGGGCTCCTCG [C>T] CCGCCCGGACCCACAGGCCACCCTC (Strand: +)
Also known as:
Comments: Detected together with CD 19 (-G) [ithaID=2465] in an Iranian subject with elevated Hb Bart's levels. The effect of this mutation on HBA1 gene expression is unclear as no regulatory sites seem to be involved. No mRNA analysis was performed to determine whether this mutation affects the α-gene expression or is merely a polymorphism.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | Unclear |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37712 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Intron 1 |
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: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC, Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects., American journal of hematology, 74(2), 99-103, 2003 PubMed
Created on 2019-05-29 16:49:10,
Last reviewed on 2019-05-29 17:15:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-05-29 16:49:10 | The IthaGenes Curation Team | Created |
| 2 | 2019-05-29 17:15:37 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. Comment updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07