IthaID: 3584

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2236599 HGVS Name: NC_000009.12:g.107487224C>T

Context nucleotide sequence:

Also known as:

Comments: SNV associated with hydroxyurea treatment efficacy in sickle cell disease/β-thalassaemia compound heterozygous patients (82 cases, 85 healthy controls).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F response to hydroxyurea


Chromosome: 9
Locus: NM_004235.6
Locus Location: N/A
Size: 1 bp
Located at: KLF4
Specific Location: Intron 3

Other details

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

Sequence Viewer

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Publications / Origin

  1. Stratopoulos A, Kolliopoulou A, Karamperis K, John A, Kydonopoulou K, Esftathiou G, Sgourou A, Kourakli A, Vlachaki E, Chalkia P, Theodoridou S, Papadakis MN, Gerou S, Symeonidis A, Katsila T, Ali BR, Papachatzopoulou A, Patrinos GP, Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients., Pharmacogenomics, 20(11), 791-801, 2019 PubMed
Created on 2020-04-30 19:31:19, Last reviewed on (Show full history)

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