IthaID: 2222


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-147 C>G HGVS Name: HBA1:c.301-3C>G
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: 38143
Size: 1 bp
Located at: α1
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Qadah T, Finlayson J, Newbound C, Pell N, Jennens M, Holmes P, Grey D, Beilby J, Ghassemifar R, A molecular tool to assess the pathological relevance of alpha-globin DNA variants., Pathology , 44(4), 337-41, 2012
Created on 2013-10-02 16:21:00, Last reviewed on 2021-01-22 12:21:18 (Show full history)

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