IthaID: 3588
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --OY | HGVS Name: | NC_000016.10:g.0_318541del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a female with ATR-16 syndrome (monosomy of 16p13.3 chromosomal region) and α-thalassaemia presented with only microcytic anaemia. She otherwise normal. DNA sequence analysis shows telomeric repeats directly joined to the unique sequence. There is a 3 bp ambiguity, suggesting a minimal telomerase-binding site contributed to the stabilisation of this breakpoint by addition of a telomere. The last unique base is position 308543 bp (coordinates: NCBI36 (hg18), NC_000016.8), interrupting the second intron of AXIN1.
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: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ, ATR-16 syndrome: mechanisms linking monosomy to phenotype., J Med Genet, 57(6), 414-421, 2020 PubMed
Created on 2020-05-18 12:45:14,
Last reviewed on 2021-11-03 15:36:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-05-18 12:45:14 | The IthaGenes Curation Team | Created |
| 2 | 2021-11-03 11:49:49 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Comment added. |
| 3 | 2021-11-03 15:36:37 | The IthaGenes Curation Team | Reviewed. Comment corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07