IthaID: 3024


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111-115 (-12bp): (-TCTGTGTGCTGG) HGVS Name: HBB:c.335-346del12bp
Hb Name: N/A Protein Info: N/A

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71909
Size: 12 bp
Located at: β
Specific Location: Exon 3

Phenotype

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: N/A
Ethnic Origin: Han Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Wang W, Wang Q, Tao T, Sun A, Ruan C, Chen S, Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese., Hemoglobin , 39(5), 359-61, 2015
Created on 2016-08-25 17:31:00, Last reviewed on 2017-07-31 12:52:48 (Show full history)

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