IthaID: 3594

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 43 (GAG>TAG);CD 71/72 (+A) HGVS Name: HBB:c.[130G>T;217dupA]
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The double in cis mutations, found in a 29-years old Chinese female during prenatal thalassemia screening, inherited from her mother. Daughter and mother presented heterozygote β-thalassaemia trait with microcytosis and high Hb A2 level. The fetus also diagnosed as carrier of the double mutations in cis.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70854 or 70941
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li J, Jiang F, Zhen L, Tang XW, Li DZ, A β-Thalassemia Trait with Two Mutations in in a Chinese Family., Hemoglobin, 43(0), 289-291, 2019 PubMed
Created on 2020-06-12 13:08:41, Last reviewed on (Show full history)

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