IthaID: 3728
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Cap +30 A>C | HGVS Name: | HBA2:c.-8A>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTCTTCTGGTCCCCACAGACTCAGAGAG [A/C] ACCCACCATGGTGCTGTCTCCTGCCGAC (Strand: +)
Also known as:
Comments: Found in one case with compound heterozygosity with rightward crossover -α3.7 [IthaID: 300], presented with Hb 14.3 g/dL, MCV 74.7 fL, MCH 23.8 pg, RBC 6 10^12/L and elevated level of HbA2 3.9%.
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33768 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |
Created on 2021-02-09 08:53:12,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-02-09 08:53:12 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07