IthaID: 3838



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs638135 HGVS Name: NC_000011.10:g.86474646A>G

Context nucleotide sequence:
TGCATATCAGGTTGGCATGAGGCCAC [A>G] GGTGTCCTCCATGAAGGTTTTTTGATT (Strand: +)

Also known as:

Comments: Associated with disease severity in Thai individuals with β0-thalassaemia/HbE (p = 1.1E-3, Bonf. P = 8.3E-1, FDR 0.01).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Severity [HP:0012824]

Location

Chromosome: 11
Locus: NM_006680.3
Locus Location: N/A
Size: 1 bp
Located at: ME3
Specific Location: Intron 7

Other details

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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2021-07-19 18:04:41, Last reviewed on (Show full history)

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