IthaID: 4000


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2238104 HGVS Name: NC_000012.12:g.6078499G>T

Context nucleotide sequence:
CACTGAACTCAGAGTGCAGATGAGG [G>T] TGTCCCAGAGAGGGTCATGTGCTCAG (Strand: +)

Also known as:

Comments: Associated with an increased risk of proteinuria in sickle cell disease cohorts (n 524 OMG-SCD, n 465 WalkPHaSST). This variant is an eQTL for r CHD4 and CD9 in glomerulus. CHD4 has been identified as a γ-globin silencer, controlling the switch from fetal to adult hemoglobin, while CD9 is a tetraspanin implicated in focal segmental glomerulosclerosis (FSGS)."

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: Proteinuria [HP:0000093]

Location

Chromosome: 12
Locus: NG_009072.2
Locus Location: 51172
Size: 1 bp
Located at: VWF
Specific Location: Intron 6

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 14:57:08, Last reviewed on (Show full history)

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