IthaID: 1402



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.64557_71923dup
Hb Name: Hb P-Congo Protein Info: βδ hybrid (β through 22; δ from 116)

Also known as: Hb Anti-Lepore P-Congo

Comments: Anti-Lepore βδ hybrid. Crossover between codon 22 (β) and codon 116 (δ)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64557
Size: 7.366 kb
Located at: δ, β

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:δβ fusion
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Duplication
Ethnic Origin: Congolese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Lehmann H, Charlesworth D, Observations on haemoglobin P (Congo type)., The Biochemical journal, 119(5), 43P, 1970 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-07 16:26:51 (Show full history)

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