IthaID: 2073



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10184550 HGVS Name: NG_011968.1:g.56340C>T

Context nucleotide sequence:
CAACTCAAGACTATCAGAATGATAT [A/G] AATATTTGTATAGATACTTATCAAA (Strand: +)

Also known as:

Comments: SNP was associated with variation in HbF levels and F-cell numbers in African Americans with sickle cell disease (n=255).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 2
Locus: NG_011968.1
Locus Location: 56340
Size: 1 bp
Located at: BCL11A
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Sedgewick AE, Timofeev N, Sebastiani P, So JC, Ma ES, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DH, BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies., Blood Cells Mol. Dis. , 41(3), 255-8, 2008 PubMed
Created on 2013-06-28 12:24:09, Last reviewed on 2016-05-17 17:52:49 (Show full history)

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