IthaID: 3283

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --JS HGVS Name: NG_000006.1:g.35801_38338delinsGGCCTCCCAACGGGCCCTCCTCCCCTCCT
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans about 6.8 kb on the α-globin gene cluster, removing almost the entire α2 and α1 genes. Breakpoints were determined. A 2538 bp deletion (NG_000006.1:g.35801_38338) existed in this deletion by comparison to the -α4.2, as well as a 29 bp insertion (NG_000006.1: g.34497_34527) into the deletion junction, which was derived from the 3' terminal of the α2 coding gene sequence during the recombination events that led to this deletion.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 6.8 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

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. Cao J, He S, Pu Y, Liu J, Liu F, Feng J, Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia., Hemoglobin , 2017 PubMed
Created on 2017-12-13 17:34:58, Last reviewed on (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.