IthaID: 182


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 78 CTG>-TG HGVS Name: HBB:c.235delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGCCTTTAGTGATGGCCTGGCTCAC [C/-] TGCCTTTAGTGATGGCCTGGCTCAC (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70959
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: Mexican
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Perea FJ, Magaña MT, Esparza MA, Ibarra B, A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation., Hemoglobin, 28(3), 261-5, 2004
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-05 13:35:39 (Show full history)

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