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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

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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