IthaID: 3925

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -42 (-C) HGVS Name: HBB:c.-92delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Detected during thalassaemia screening in persons with microcytic hypochromic anemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70503
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Xinh PT, Chuong HQ, Ha NTT, Tram HDB, Van Dong C, Thanh LVH, Hoa NTH, Nghia H, Binh NT, Dung PC, Vu HA, Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam., Mol Biol Rep, 49(4), 2601-2606, 2022 PubMed
Created on 2022-05-11 15:46:59, Last reviewed on 2022-05-12 15:13:58 (Show full history)

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