IthaID: 173



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 64 (-G) HGVS Name: HBB:c.194delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGCAACCCTAAGGTGAAGGCTCATG [-/G] CAAGAAAGTGCTCGGTGCCTTTAG (Strand: -)

Also known as:

Comments: Found as a novel mutation in a Swiss patient. The loss of a nt G from codon 64 changes the reading frame with a stop codon at codon 88 resulting in a premature termination of translation.

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: 70918
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: Swiss
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Chehab FF, Winterhalter KH, Kan YW, Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age., Blood, 74(2), 852-4, 1989 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-11 11:10:53 (Show full history)

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