IthaID: 2263



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: α-ZF HGVS Name: NC_000016.10:g.174046_192396del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The ~18 kb deletion removes the HBA1 and HBQ1 genes leaving intact the HBA2 gene.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34909
Size: 18.35 kb
Deletion involves: α1

Other details

Type of Mutation: Deletion
Ethnic Origin: N/A
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. Indrak K, Gu YC, Novotny J, Huisman TH, A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote., Am. J. Hematol. , 43(2), 144-5, 1993 PubMed
  2. Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR, Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease., Nat. Genet. , 34(2), 157-65, 2003 PubMed
Created on 2013-10-03 18:35:37, Last reviewed on 2021-06-25 13:46:58 (Show full history)

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