IthaID: 2869



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1003586 HGVS Name: NG_000007.3:g.69476G>A

Context nucleotide sequence:
GATGGGAGAAAGGCGATCACGTTGG [A/G] AAGCTATAGAGAAAGAAGAGTAAAT (Strand: -)

Also known as:

Comments: SNP associated with HbF level variation in the general (non-anaemic) population of Sardinia (n=4305).

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]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 69476
Size: 1 bp
Located at: β
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 PubMed
Created on 2016-05-18 17:39:12, Last reviewed on 2016-05-18 17:42:02 (Show full history)

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