IthaID: 2923



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1800795 HGVS Name: NG_011640.1:g.4880C>G

Context nucleotide sequence:
ACTTTTCCCCCTAGTTGTGTCTTGC [C/G] ATGCTAAAGGACGTCACATTGCACA (Strand: +)

Also known as: -174G>C

Comments: The -174G>C polymorphism associated with leg ulcers in sickle cell anaemia (SCA) patients from Brazil [PMID: 25595815]. SNP (G allele) associated with a lower risk of stroke in SCA patients from Brazil [PMID: 28542795].

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Leg ulcers [OMIM:150590]
Stroke [HP:0001297] [OMIM:601367]

Location

Chromosome: 7
Locus: NG_011640.1
Locus Location: 4880
Size: 1 bp
Located at: IL6
Specific Location: Promoter

Other details

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

Sequence Viewer

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Publications / Origin

  1. Vicari P, Adegoke SA, Mazzotti DR, Cançado RD, Nogutti MA, Figueiredo MS, Interleukin-1β and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia., Blood Cells Mol. Dis. , 54(3), 244-9, 2015 PubMed
  2. Domingos IF, Pereira-Martins DA, Coelho-Silva JL, Borges-Medeiros RL, Falcão DA, Azevedo RC, Anjos AC, Costa FF, Mendonça TF, Cavalcanti MS, Araujo AS, Lucena-Araujo AR, Bezerra MA, Interleukin-6 G-174C polymorphism predicts higher risk of stroke in sickle cell anaemia., Br. J. Haematol. , 2017 PubMed
Created on 2016-05-26 12:07:14, Last reviewed on 2017-07-19 10:54:56 (Show full history)

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