IthaID: 178


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 72-73 (-AGTGA, +T) HGVS Name: HBB: c.217_221delAGTGAinsT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGGCAAGAAAGTGCTCGGTGCCTTT [AGTGA/T] TGGCCTGGCTCACCTGGACAACCTC (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: 70941
Size: 5 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: British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Waye JS, Eng B, Patterson M, Chui DH, Fernandes BJ, Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T)., Hemoglobin, 21(4), 385-7, 1997
Created on 2010-06-16 16:13:15, Last reviewed on 2021-05-26 16:10:29 (Show full history)

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