IthaID: 2274



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10483801 HGVS Name: NG_011964.1:g.35428C>A

Context nucleotide sequence:
AAGTGGGAATGCAGTTTGGCTAGTG [A/C] AAGTGGCAGATTTCCTCTGCCTTCA (Strand: +)

Also known as:

Comments: SNP associated with changes in HbF levels in sickle cell anaemia patients of African-American origin (MSH cohort) in response to hydroxyurea (HU) treatment [PMID: 17299377]. It also associated with elevated HbF levels in Hb S/β-thal patients after HU treatment and in non-transfusion-dependent β-thal (NTDT) patients of Hellenic (Greek) origin in two independent studies [PMID: 31039620]. In silico analysis showed that thia variant lies at a putative binding site for hsa-miR-3928-3p.

External Links

Phenotype

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

Location

Chromosome: 14
Locus: NG_011964.1
Locus Location: 35428
Size: 1 bp
Located at: ARG2
Specific Location: Intron 7

Other details

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

Sequence Viewer

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Publications / Origin

  1. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007 PubMed
  2. Green NS, Barral S, Emerging science of hydroxyurea therapy for pediatric sickle cell disease., Pediatr. Res. , 75(1), 196-204, 2014 PubMed
  3. Kolliopoulou A, Siamoglou S, John A, Sgourou A, Kourakli A, Symeonidis A, Vlachaki E, Chalkia P, Theodoridou S, Ali BR, Katsila T, Patrinos GP, Papachatzopoulou A, Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study., Hemoglobin, 2019 PubMed
Created on 2013-10-07 15:40:05, Last reviewed on 2019-05-28 12:17:06 (Show full history)

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