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]

Also known as: αααα222

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 222.199 kb
Located at: HS40, ζ, α2, α1, NPRL3

Other details

Type of Mutation: Duplication
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2016-09-06 17:40:11, Last reviewed on 2021-11-25 13:20:35 (Show full history)

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