IthaID: 71


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 15/16 (+G) HGVS Name: HBB:c.50dupG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGTCTGCCGTTACTGCCCTGTGGGG [-/G] CAAGGTGAACGTGGATGAAGTTGG (Strand: -)

Also known as:

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: 70644
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Mo QH, Li XR, Li CF, He YL, Xu XM, A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values., Journal of clinical pathology, 58(9), 923-6, 2005
Created on 2010-06-16 16:13:14, Last reviewed on 2019-11-12 16:45:27 (Show full history)

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