IthaID: 2802
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2855126 | HGVS Name: | NG_000007.3:g.45699G>C |
Context nucleotide sequence:
GAAGAAAGAGAAAAAAATAAGCTTC [C/G] GTGTTCAGTGGATTAGAAACCATGT (Strand: -)
Also known as:
Comments: Associated with HbF levels in the general (non-anaemic) population of Sardinia (n=4305). Associated with HbF levels and disease severity in patients from Thailand with HbE/β0-thalassemia. Associated with higher levels of serum uric acid in African Americans (n=1976).
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] Hyperuricemia [HP:0002149] Severity [HP:0012824] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 45699 |
| Size: | 1 bp |
| Located at: | HBG1-HBG2 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Thai, Sardinian, African American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
- Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010
- Shriner D, Kumkhaek C, Doumatey AP, Chen G, Bentley AR, Charles BA, Zhou J, Adeyemo A, Rodgers GP, Rotimi CN, Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans., BMC Med. Genet. , 16(0), 103, 2015
Created on 2016-05-16 18:36:20,
Last reviewed on 2021-07-08 16:32:30 (Show full history)
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