IthaID: 93


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 (-C) HGVS Name: HBB:c.85delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CGTGGATGAAGTTGGTGGTGAGGCC [-/C] TGGGCAGGTTGGTATCAAGGTTACA (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: 70679
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. el-Hashemite N, Petrou M, Khalifa AS, Heshmat NM, Rady MS, Delhanty JD, Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population., Human genetics, 99(2), 271-4, 1997
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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