IthaID: 2273


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --GS HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Dysmorphic with learning difficulties. Unbalanced translocation involving satellite DNA from chromosome 21p.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1595 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

Publications / Origin

  1. Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR, Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16., Hum. Mol. Genet. , 10(4), 339-52, 2001
Created on 2013-10-04 11:30:20, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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