IthaID: 2438


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 22-26 (-9 bp) HGVS Name: HBA2:c.69_77delCGAGTATGG
Hb Name: Hb Zhanjiang Protein Info: α2 22(B3) - 25(B6) Gly-Glu-Tyr-Gly->0 AND inserted Gly

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33844
Size: 9 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Liao C, Zhou JY, Xie XM, Liu YN, Chen LH, Li DZ, Identification of a new α chain variant at codons 22-25 (-9 nts) using the Sebia capillarys 2 electrophoresis system., Hemoglobin , 35(2), 166-70, 2011
Created on 2014-06-02 09:17:19, Last reviewed on (Show full history)

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