IthaID: 2203


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CAP +29 (G>C) HGVS Name: HBA1:c.-9G>C
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: 37571
Size: 1 bp
Located at: α1
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Hadavi V, Jafroodi M, Hafezi-Nejad N, Moghadam SD, Eskandari F, Tarashohi S, Pourfahim H, Oberkanins C, Law HY, Najmabadi H, Alpha-thalassemia mutations in Gilan Province, North Iran., Hemoglobin , 33(3), 235-41, 2009
Created on 2013-10-02 09:41:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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