IthaID: 2417



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 31 AGG>--G HGVS Name: HBA1:c.94_95delAG | HBA2:c.94_95delAG
Hb Name: N/A Protein Info: α2 or α1 31 (-AG); modified C-terminal sequence

Also known as:

Comments: Found in the context of a −α3.7 thalassemia chromosome.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 2 bp
Located at: α3.7 hybrid
Specific Location: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Zhao P, Buller-Burckle AM, Peng M, Anderson A, Han ZJ, Gallivan MV, Secondary mutation (c.94_95delAG) in a -α3.7 allele associated with Hb H disease in two unrelated African American individuals homozygous for the -α(3.7) deletion (-α3.7/-α3.7T)., Hemoglobin , 36(1), 103-7, 2012 PubMed
Created on 2014-05-29 08:33:52, Last reviewed on 2020-10-02 10:35:08 (Show full history)

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