IthaID: 4003


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4903539 HGVS Name: NC_000014.9:g.77066345T>G

Context nucleotide sequence:
CTCTAGAGGACATGGGTCAAAAGGT [T>G] TTCATGGTAAATGGTGCCTCTGCAC (Strand: +)

Also known as:

Comments: Associated with estimated glomerular filtration rate (eGFR) in sickle cell disease cohorts (n 458 OMG-SCD, n 493 WalkPHaSST). In silico data showed that this variant may alter the binding motifs for TFs integral to kidney function, such as NFATC1 and retinoic acid receptors RARA, RARB, and RARG.

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: Abnormal GFR [HP:0012212]

Location

Chromosome: 14
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: LINC02288
Specific Location: Intron 3

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: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Garrett ME, Soldano KL, Erwin KN, Zhang Y, Gordeuk VR, Gladwin MT, Telen MJ, Ashley-Koch AE, Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy., Blood Adv, 2022
Created on 2023-01-17 15:13:43, 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.