IthaID: 1125

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 97/98 (-ACG) HGVS Name: HBB:c.293_295delACG
Hb Name: Hb Galicia Protein Info: β 97(FG4) - 98(FG5) His-Val->0 AND inserted Leu

Context nucleotide sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71017
Size: 1 bp
Located at: β
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Codrington JF, Prchal JT, Hall KM, de Pablos JM, Rodriguez I, Hemoglobin Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions., Blood, 75(9), 1883-7, 1990 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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