IthaID: 2201



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 107 G>A [Gly>Asp] HGVS Name: HBD:c.323G>A
Hb Name: N/A Protein Info: δ 107 Gly>Asp

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64531
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Jain S, Edison ES, Mathews V, Shaji RV, A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India., Int. J. Hematol. , 95(5), 570-2, 2012 PubMed
Created on 2013-10-01 17:20:22, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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