IthaID: 155


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 47 (+A) HGVS Name: HBB:c.143dup
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGAGGTTCTTTGAGTCCTTTGGGGA [-/A] TCTGTCCACTCCTGATGCTGTTATG (Strand: -)

Also known as:

Comments: The insertion of an extra A in codon 47 (GAT>GAAT) introduces a frameshift with a stop codon at codon 52 (TGA) and 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: 70867
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Codrington JF, Li HW, Kutlar F, Gu LH, Ramachandran M, Huisman TH, Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant., Blood, 76(6), 1246-9, 1990
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 09:09:29 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.