IthaID: 2429



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 62 GTG>GCG [Val>Ala] HGVS Name: HBA1:c.188T>C
Hb Name: N/A Protein Info: α1 62(E11) Val>Ala

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37884
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Liao C, Tang HS, Li R, Li DZ, Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) causing nondeletional α-thalassemia in a Chinese family., Hemoglobin , 37(2), 188-91, 2013 PubMed
Created on 2014-05-29 16:55:24, Last reviewed on (Show full history)

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