IthaID: 4051


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1563408 HGVS Name: NC_000007.14:g.114663134G>A

Context nucleotide sequence:
GTATATTTACATTTTAAAAATTTT [G>A] TATGAATGTTGCTGTTCTTGCAAA (Strand: +)

Also known as:

Comments: Associated with disease severity in Thai individuals with HbE/β0-thalassemia (P-value 4.1E-4; Bonf. P-value 3.1E-01; FDR 0.01).

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: Severity [HP:0012824]

Location

Chromosome: 7
Locus: NG_007491.3
Locus Location: N/A
Size: 1 bp
Located at: FOXP2
Specific Location: Intron 14

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

In silico pathogenicity prediction

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
Created on 2023-07-05 10:10:26, Last reviewed on 2023-07-05 10:12:00 (Show full history)

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