IthaID: 186


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 84-86 (-8 bp): (-CACCTTTG) HGVS Name: HBB:c.253_260del
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70977
Size: 8 bp
Located at: β
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Hattori Y, Okayama N, Ohba Y, Yamashiro Y, Yamamoto K, Yamamoto K, Koyama S, Sawada U, A new beta-thalassemia allele, codon 26 (GAG-->GTAG), found in a Japanese., Hemoglobin, 22(1), 79-82, 1998
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-13 17:33:42 (Show full history)

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