IthaID: 75

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 16 GGC>GG- HGVS Name: HBB:c.51delC
Hb Name: N/A Protein Info: β 16 (-C); modified C-terminal sequence: (16)Gly-(17)Arg-COOH

Context nucleotide sequence:

Also known as:

Comments: One additional case reported the G deletion in combination with the CD 10 (GCC>GCA) [IthaID: 65] in a male presented with severe anaemia (Hb 6.9 g/dl) and decreased level of MCV (71.8 fL), MCH (24 pg) and RBC (2.94 X 10^12/L). Hb analysis showed increased Hb A2 (6.3 %) and Hb F (19.7 %) levels.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70645
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kazazian HH, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG, Molecular characterization of seven beta-thalassemia mutations in Asian Indians., The EMBO journal, 3(3), 593-6, 1984 PubMed
  2. Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed


1Mohd Yasin, Norafiza 2020-10-20Report of an update.
Created on 2010-06-16 16:13:14, Last reviewed on 2021-10-21 09:17:14 (Show full history)

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