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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
Created on 2020-05-18 12:45:14,
Last reviewed on 2021-11-03 15:36:37 (Show full history)
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