IthaID: 3018



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --NOR HGVS Name: NC_000016.10:g.170694_184101del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: HGVS is provided according the 3’ end rule of HGVS Sequence Variant Nomenclature recommendations. In literature reported that the 13.4 Kb deletion starts upstream of HBA2 at position 170677/170694 and ends at position 184083/184100 because of an 18 nucleotides homologous sequence.

External 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: 31577
Size: 13.408 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021 PubMed
Created on 2016-08-25 12:58:17, Last reviewed on 2022-01-28 19:50:26 (Show full history)

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