IthaID: 410


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 125 CTG>CAG [Leu>Gln] HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The missense variant CD125 CTG>CAG [Leu>Gln] was found on a chromosome that carries the -3.7 kb deletion (-α3.7). Not clear whether it occurred on the HBA2 or HBA1 gene, nor which of the various -α3.7 deletion types [SALSA MLPA Probemix P140 HBA]. Another study located the CD 125 CTG>CAG change in exon 3 of HBA2, named Hb Westeinde [IthaID: 736].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: N/A
Size: 1 bp
Located at: α1 or α2, α3.7 hybrid

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, Rund D, Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel., American journal of hematology, 65(3), 196-203, 2000
Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-08 12:33:10 (Show full history)

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