IthaID: 3326
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 73 GTG>G-G | HGVS Name: | HBA1:c.221delT |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACG [T/-] GGACGACATGCCCAACGCGCTGTCCGC (Strand: +)
Comments: The case was referred as a Hb S carrier. Haematology/biochemistry analyses showed red cell indices typical of Hb S heterozygosity, with Hb S 32.2%. Protein stability and oxygen affinity were not tested.
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: | 37917 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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To the best of our knowledge, this is unpublished data.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 | Traeger Synodinos, Jan | 2018-03-28 | First report. |
| 2 | Fylaktou, Eirini | 2018-03-28 | First report. |
Created on 2018-03-31 14:30:03,
Last reviewed on 2018-04-02 10:10:23 (Show full history)
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