IthaID: 3308

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 115-116 (-CC, +G) >156aa HGVS Name: HBB:c.348_349delinsG
Hb Name: Hb Grand Junction Protein Info: N/A

Also known as:

Comments: Frameshift mutation that extends the protein by 10 residues to amino acid 156.

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71922
Size: 2 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kent MW, Oliveira JL, Hoyer JD, Swanson KC, Kluge ML, Dawson DB, Liang X, Winkler TJ, Breaux CW, LaCount R, Silliman CC, Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant., Hemoglobin , 38(1), 8-12, 2014 PubMed
Created on 2018-02-06 19:37:45, Last reviewed on (Show full history)

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