IthaID: 3999

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs9315599 HGVS Name: NC_000013.11:g.20463469C>G

Context nucleotide sequence:

Also known as:

Comments: Associated with an increased risk of proteinuria in sickle cell disease cohorts (n 516 OMG-SCD, n 461 WalkPHaSST).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Proteinuria [HP:0000093]


Chromosome: 13
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: CRYL1
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

Sequence Viewer

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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 PubMed
Created on 2023-01-17 14:52:11, Last reviewed on 2023-01-17 14:53:23 (Show full history)

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