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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-08 12:33:10 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.