IthaID: 336


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)TAT HGVS Name: NC_000016.10:g.10020_152823del
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:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

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

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Flint J, Craddock CF, Villegas A, Bentley DP, Williams HJ, Galanello R, Cao A, Wood WG, Ayyub H, Higgs DR, Healing of broken human chromosomes by the addition of telomeric repeats., American journal of human genetics, 55(3), 505-12, 1994
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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