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

Phenotype

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

Location

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.