IthaID: 2024

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 142 (-C) HGVS Name: HBB:c.428delC
Hb Name: Hb Montreal II Protein Info: β 142 (-C)

External Links

No available links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 72002
Size: 1 bp
Located at: β
Specific Location: Exon 3


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Chagnon P, Mollica L, Belisle C, Deveaux C, Angelo GD, Roy DC, Soulières D, Busque L., Hb Montreal II: a novel elongated beta-globin variant caused by a frameshift mutation [beta142 (-C)]., Hemoglobin, 32(4), 351-9, 2008 PubMed
Created on 2010-10-16 11:59:51, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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