IthaID: 3814


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2187608 HGVS Name: NG_000007.3:g.48915C>G

Context nucleotide sequence:
CCTACAACATACAGGGTTCATGGTGG [C>G] AAGAAGATAGCAAGATTTAAATTAT (Strand: -)

Also known as:

Comments: 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: Severity [HP:0012824]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48915
Size: 1 bp
Located at:
Specific Location: Intron 2

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 2021-07-09 14:33:14, Last reviewed on (Show full history)

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