IthaID: 375

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 51-55 (-13 bp deletion) HGVS Name: HBA1:c.155_167delGCTCTGCCCAGGT
Hb Name: N/A Protein Info: α1 51 - 55 (-GCTCTGCCCAGGT); modified C-terminal sequence: (51)Val-Arg-Ala-Thr-Ala-Arg-Arg-Trp-Pro-Thr- (61)Arg-COOH

Context nucleotide sequence:

Also known as:

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37851
Size: 13 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ayala S, Colomer D, Aymerich M, Abella E, Vives Corrons JL, First description of a frameshift mutation in the alpha1-globin gene associated with alpha-thalassaemia., British journal of haematology, 98(1), 47-50, 1997 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 17:32:24 (Show full history)

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