IthaID: 3275
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | (αα)ALT | HGVS Name: | NC_000016.10:g.103193_106553delins35 |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion removes only the the major α-globin regulatory element MCS-R2 (HS-40 site). The deletion extends from position chromosome 16g.103,193 to 106,553 removing 3361 bp. In addition, an insertion of 39 bp bridging the deletion breakpoints was observed possibly resulting from a complex rearrangement involving two fragments of DNA from chromosome 3.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | N/A |
Size: | 3.361 kb |
Deletion involves: | HS40 |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Portuguese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | Yes |
Sequence Viewer
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Publications / Origin
- Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017 PubMed
Created on 2017-11-08 20:29:58,
Last reviewed on 2021-11-30 15:56:23 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2017-11-08 20:29:58 | The IthaGenes Curation Team | Created |
2 | 2021-11-30 15:56:23 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2022-05-16 10:06:11