IthaID: 3544


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1526083 HGVS Name: NG_050579.1:g.9354A>G

Context nucleotide sequence:
ATTTGCATATGCACAGGCACTCCATTC [A>G] GTTGTCATCAAATGCCCTTTGTTCAGA (Strand: +)

Also known as:

Comments: SNP is significantly associated with development of ACS in patients (aged <5 years) with sickle cell anaemia. Source: Blood (2007) 110 (11): 2247; doi.org/10.1182/blood.V110.11.2247.2247

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: Acute chest syndrome

Location

Chromosome: 7
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: PIK3CG
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010
Created on 2019-12-13 12:07:13, Last reviewed on (Show full history)

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