IthaID: 3070
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | αααα282 | HGVS Name: | NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The duplication spans a region starting from the telomere (position 60001 bp) to a downstream breakpoint localized to position 282,199 bp (GRCh37.p13). The duplication segment is inserted between 94,054-94,055 bp (GRCh37.p13). According to the telomere starting site, the duplication spans a smaller region of 222 kb including entire α-globin locus. Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with normal haemoglobin levels. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X, Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families., Mol. Genet. Genomics , 291(3), 1443-50, 2016
Created on 2016-09-06 17:40:11,
Last reviewed on 2021-11-25 13:20:35 (Show full history)
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