IthaID: 3655


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1001179 HGVS Name: NG_013339.2:g.4760C>T

Context nucleotide sequence:
GAGCCCCGCCCTGGGTTCGGCTAT [C>T] CCGGGCACCCCGGGCCGGCGGGG (Strand: +)

Also known as:

Comments: 2KB Upstream Variant; Associated with response to hydroxyurea treatment in patients with sickle cell anaemia based on observed alterations in laboratory biomarkers, including hemolytic and inflammatory parameters.

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: Response to hydroxyurea

Location

Chromosome: 11
Locus: NG_013339.2
Locus Location: 4760
Size: 1 bp
Located at: CAT
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

In silico pathogenicity prediction

Publications / Origin

  1. Yahouédéhou SCMA, Neres JSDS, da Guarda CC, Carvalho SP, Santiago RP, Figueiredo CVB, Fiuza LM, Ndidi US, de Oliveira RM, Fonseca CA, Nascimento VML, Rocha LC, Adanho CSA, da Rocha TSC, Adorno EV, Goncalves MS, Sickle Cell Anemia: Variants in the , , and Genes Are Associated With Improved Hydroxyurea Response., Front Pharmacol, 11(0), 553064, 2020
Created on 2020-10-13 12:47:44, Last reviewed on (Show full history)

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