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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
Created on 2019-12-13 12:07:13, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.