IthaID: 345



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;Init CD ATG>GTG HGVS Name: NG_000006.1:g.[33776A>G;34247_38050del]
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Inititiation codon ATG>GTG change found on a chromosome that carries the -3.7 kb deletion (-α3.7). HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33776 or 34247
Size: 1 bp or 3.804 kb
Located at: α2, α3.7 hybrid

Other details

Type of Mutation: Combination
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH, An alpha-globin gene initiation codon mutation in a black family with HbH disease., Blood, 70(3), 729-32, 1987 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-08 10:46:52 (Show full history)

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