IthaID: 3845

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7924684 HGVS Name: NG_000007.3:g.52118G>A

Context nucleotide sequence:

Also known as:

Comments: Associated with HbF levels and gamma chains ratio (Gγ:Αγ) in an Angolan pediatric population with sickle cell anaemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 52118
Size: 1 bp
Located at: BGLT3
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Angolan
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Delgadinho M, Ginete C, Santos B, Miranda A, Brito M, Genotypic Diversity among Angolan Children with Sickle Cell Anemia., Int J Environ Res Public Health, 18(10), 0, 2021 PubMed
Created on 2021-08-20 15:58:35, Last reviewed on 2021-08-20 15:59:36 (Show full history)

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