IthaID: 2462


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 71 -T HGVS Name: HBB:c.216delT
Hb Name: N/A Protein Info: β 71 (-T); modified C-terminal sequence: (71)Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr- Ser-Arg-Ala-Pro-Leu-Pro-His-(88)COOH

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70940
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C, A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT]., Hemoglobin , 36(6), 586-8, 2012
Created on 2014-06-03 14:46:14, Last reviewed on (Show full history)

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