IthaID: 3391


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS-II-648/649 (-T) HGVS Name: HBB:c.316-202del
Hb Name: N/A Protein Info: N/A

Comments: Found as a heterozygote in a proband with haematological parameters suggestive of a β-thalassaemia carrier. In silico analysis suggests that the T deletion could create a consensus active 5' donor splice site (GT).

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71688
Size: 1 bp
Located at: β
Specific Location: Intron 2

Phenotype

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

Other details

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

Publications / Origin

  1. Azimi A, Alibakhshi R, Hayati H, Tahmasebi S, Alimoradi S, IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype., Hemoglobin, 41(1), 44-46, 2017
Created on 2019-04-08 14:57:20, Last reviewed on (Show full history)

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