IthaID: 69


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 14/15 (+G) HGVS Name: HBB:c.45dupG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGAGAAGTCTGCCGTTACTGCCCTG [-/G] TGGGGCAAGGTGAACGTGGATGAAG (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: 70639
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

Frequencies

Publications / Origin

  1. Chan V, Chan TK, Kan YW, Todd D, A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA., Blood, 72(4), 1420-3, 1988
Created on 2010-06-16 16:13:14, Last reviewed on 2019-11-12 16:23:37 (Show full history)

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