IthaID: 3057



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG) HGVS Name: HBB:c.272_295dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in combination with the haemoglobin (Hb) variant Hb N-Baltimore, in cis, in two members of a family (mother and daughter), presenting with typical features of β-thal major or intermedia depending on their α-globin genotypes.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70996
Size: 24 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Iranian
Inheritance: Dominant
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Farashi S, Rad F, Shahmohammadi B, Imanian H, Azarkeivan A, Najmabadi H, First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain., Hemoglobin , 40(2), 102-7, 2016 PubMed
Created on 2016-09-02 13:20:19, Last reviewed on 2019-11-11 11:39:01 (Show full history)

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