IthaID: 2727


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3759070 HGVS Name: NG_000007.3:g.27218G>C

Context nucleotide sequence:
TGTTTACAATGCACTCCTTAAGAGA [G>C] CTAGAACTGGGTGAGATTCTGTTTT (Strand: -)

Also known as:

Comments: Associated with HbF levels in the younger subjects (<24 years; n=980) of the Cooperative Study of Sickle Cell Disease (CSSCD). Associated with disease severity in Thai individuals with β0-thalassaemia/HbE.

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]
Severity [HP:0012824]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 27218
Size: 1 bp
Located at: ε
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008
  2. 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
Created on 2016-05-13 11:25:05, Last reviewed on 2021-07-12 15:38:58 (Show full history)

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