IthaID: 306


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α7.9 HGVS Name: NG_000006.1:g.28322_36260del
Hb Name: N/A Protein Info: N/A

Also known as:

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:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 7.9 kb
Deletion involves: α2

Other details

Type of Mutation: Deletion
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M, Giordano PC, A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin., British journal of haematology, 120(2), 364-6, 2003
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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