IthaID: 2067



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs7557939 HGVS Name: NG_011968.1:g.64287C>T

Context nucleotide sequence:
TACATCCTTGAGCTACACAGGCTAA [A/G] CAAGAGTGAGAGAGGGTGATGCTGA (Strand: +)

Comments: SNP associated with elevated HbF in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1275), as well as in an independent study sample acquired from the CSSCD, the Comprehensive Sickle Cell Centers Collaborative Data (CDATA) study, and the Thomas Jefferson University (n=254). SNP associated with HbF levels in individuals from Brazil with sickle cell disease (n=350).

External Links

Location

Chromosome: 2
Locus: NG_011968.1
Locus Location: 64287
Size: 1 bp
Located at: BCL11A
Specific Location: Intron 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African American, Brazilian
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH, DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease., Proc. Natl. Acad. Sci. U.S.A. , 105(33), 11869-74, 2008 PubMed
  2. Green NS, Ender KL, Pashankar F, Driscoll C, Giardina PJ, Mullen CA, Clark LN, Manwani D, Crotty J, Kisselev S, Neville KA, Hoppe C, Barral S, Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea., PLoS ONE , 8(2), e55709, 2013 PubMed
  3. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
Created on 2013-06-28 11:49:33, Last reviewed on 2016-05-25 11:55:39 (Show full history)

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