IthaID: 2473



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-897 A>G HGVS Name: HBD:c.316-2A>G
Hb Name: N/A Protein Info: δ nt 1390 A>G

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64522
Size: 1 bp
Located at: δ
Specific Location: Intron 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Middle Eastern
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Trifillis P, Ioannou P, Schwartz E, Surrey S, Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis., Blood, 78(12), 3298-305, 1991 PubMed
Created on 2014-06-03 17:06:57, Last reviewed on 2015-08-24 10:19:20 (Show full history)

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