IthaID: 81


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 20/21 (+G) HGVS Name: HBB:c.64dupG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGTGGGGCAAGGTGAACGTGG [-/G] ATGAAGTTGGTGGTGAGGCCC (Strand: -)

Also known as:

Comments: Found in an Ashkenazi beta-thalassaemia carrier originating from Bellorussia (Minsk).

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: 70658
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: Ashkenazi Jewish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Oppenheim A, Oron V, Filon D, Fearon CC, Rachmilewitz EA, Kazazian HH, Rund D, Sporadic alleles, including a novel mutation, characterize beta-thalassemia in Ashkenazi Jews., Human mutation, 2(2), 155-7, 1993
Created on 2010-06-16 16:13:14, Last reviewed on 2019-11-12 15:28:54 (Show full history)

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