IthaID: 157


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 49 (-C) HGVS Name: HBB:c.150delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGTTCTTTGAGTCCTTTGGGGATCTGTC [-/C] ACTCCTGATGCTGTTATGGGCAACCCTA (Strand: -)

Also known as:

Comments: Found in a homozygous state in Jordanian β-thalassemia patients.

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: 70874
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: Jordanian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Sadiq MF, Eigel A, Horst J, Spectrum of beta-thalassemia in Jordan: identification of two novel mutations., American journal of hematology, 68(1), 16-22, 2001
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-07 09:24:29 (Show full history)

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