IthaID: 4044


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 87-91 (-14 bp) HGVS Name: HBB:c.263_276del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Reported in a heterozygote with: HGB 78g/L,MCV 73.8fL, MCH 22.5pg, Hb A2 4.7%

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70987
Size: 14 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: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Xian J, Wang Y, He J, Li S, He W, Ma X, Li Q, Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China., Clin Appl Thromb Hemost, 28(0), 10760296221119807, 2022
Created on 2023-06-30 15:12:14, Last reviewed on (Show full history)

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