IthaID: 3702



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2246809 HGVS Name: NC_000012.12:g.10404445A>G

Context nucleotide sequence:
ACATAGCTATAAATAAAAACACAGT [A>G] TAATCTCCTGTGCATTAATAAATTTAA (Strand: -)

Also known as:

Comments: The 'A' allele associated with a lower frequency of retinopathy in a cohort of sickle cell disease patients (mainly from sub-Saharan Africa).

External Links

Location

Chromosome: 12
Locus: NM_001199805.1
Locus Location: N/A
Size: 1 bp
Located at: KLRC4-KLRK1
Specific Location: Intron 4

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Retinopathy [HP:0000488]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Tozatto-Maio K, Girot R, Ly ID, Silva Pinto AC, Rocha V, Fernandes F, Diagne I, Benzerara Y, Dinardo CL, Soler JP, Kashima S, Araujo IL, Kenzey C, Fonseca GHH, Rodrigues ES, Volt F, Jarduli L, Ruggeri A, Mariaselvam C, Gualandro SFM, Rafii H, Cappelli B, Nogueira FM, Scigliuolo GM, Guerino-Cunha RL, Malmegrim KCR, Simões BP, Gluckman E, Tamouza R, Polymorphisms in Inflammatory Genes Modulate Clinical Complications in Patients With Sickle Cell Disease., Front Immunol, 11(0), 2041, 2020 PubMed
Created on 2020-11-17 16:13:48, Last reviewed on (Show full history)

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