IthaID: 85



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 24 (-G, +CAC) HGVS Name: HBB:c.74delinsCAC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGCAAGGTGAACGTGGATGAAGTTG [G/CAC] TGGTGAGGCCCTGGGCAGGTTGGTA (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: 70668
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

Sequence Viewer

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Publications / Origin

  1. Deidda G, Novelletto A, Hafez M, el-Ziny M, Terrenato L, Felicetti L, A new beta-thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides., British journal of haematology, 79(1), 90-2, 1991 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2023-07-13 09:50:58 (Show full history)

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