IthaID: 3672
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -73 A>C | HGVS Name: | HBB:c.-123A>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CACCCTGTGGAGCCACACCCTAGGGTTGGCCA [A/C] TCTACTCCCAGGAGCAGGGAGGGCAGGAGCCA (Strand: +)
Also known as:
Comments: Found in three Malay females with normal hematological presentation and only slightly increased Hb A2 levels (3.8%). The novel variant was found in combination with the rightward –α3.7 deletion in two of the females.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 70472 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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To the best of our knowledge, this is unpublished data.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 | 2020-10-20 | First report. |
Created on 2020-10-23 10:46:27,
Last reviewed on 2022-09-20 15:48:31 (Show full history)
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