IthaID: 3070



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: αααα282 HGVS Name: NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200]
Hb Name: N/A Protein Info: N/A

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.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 2021-06-25 10:39:47 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.