IthaID: 3108


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7118086 HGVS Name: NC_000011.10:g.5316981T>C

Context nucleotide sequence:
CTGGAGTTTATGCATTTCAATTGCA [C/T] TGTTGTCTTTTCTGATACTTTGGGA (Strand: +)

Also known as:

Comments: SNP associated with disease severity and HbF levels in Thai β0-thalassaemia/HbE patients.

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]

Location

Chromosome: 11
Locus:
Locus Location: N/A
Size: 1 bp
Located at: OR51B2
Specific Location: N/A

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. Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat PA, Sripichai O, Kumasaka N, Takahashi A, Svasti S, Munkongdee T, Mahasirimongkol S, Peerapittayamongkol C, Viprakasit V, Kamatani N, Winichagoon P, Kubo M, Nakamura Y, Fucharoen S, A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E., Hum. Genet. , 127(3), 303-14, 2010
Created on 2016-09-28 14:23:06, Last reviewed on (Show full history)

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