IthaID: 175


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 67 (-TG) HGVS Name: HBB:c.203_204delGT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TAAGGTGAAGGCTCATGGCAAGAAAG [-/TG] CTCGGTGCCTTTAGTGATGGCCTG (Strand: -)

Also known as:

Comments: Found in combination with a deletion variant in a Filipino proband presenting with β-thalassaemia major.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: 70927
Size: 2 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: Filipino
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Eng B, Chui DH, Saunderson J, Olivieri NF, Waye JS, Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion., Human mutation, 2(5), 375-9, 1993
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-11 15:03:16 (Show full history)

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