IthaID: 3287

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 89-93 (-14bp): (-AGTGAGCTGCACTG) HGVS Name: HBB:c.268_281delAGTGAGCTGCACTG
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion causes a frameshift, which results in a premature stop codon at codon 89, leading to a shorter and unfinished protein product.

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70992
Size: 14 bp
Located at: β
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Cheng C, Peng Q, Li S, Yang L, Li W, Rao C, Lu X, Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family., Hemoglobin , 2017 PubMed
Created on 2017-12-19 17:39:38, Last reviewed on (Show full history)

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