IthaID: 3483


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 121 GAA>-AA HGVS Name: HBB:c.364delG
Hb Name: Hb Mahasarakham Protein Info: N/A

Also known as:

Comments: Single nucleotide deletion (-G) generating a frameshift, which results in an elongated β-globin and a modified C-terminal sequence. Found as a compound heterozygote with Hb E variant in a 2-year-old proband with transfusion-dependent beta-thalassaemia.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 6394
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

Publications / Origin

  1. Nuinoon M, Thipthara O, Fucharoen S, Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (: c.364delG) and Hb E (: c.79G>A) with Heterozygous α-Thalassemia-2., Hemoglobin, 43(1), 52-55, 2019
Created on 2019-11-04 14:45:36, Last reviewed on 2019-11-04 14:55:47 (Show full history)

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