IthaID: 3205

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2814778 HGVS Name: NG_011626.2:g.5174T>C

Context nucleotide sequence:

Also known as:

Comments: SNP associated with white blood cell (WBC) and absolute neutrophil count (ANC) levels in SCA pediatric cohorts acquired from the HUSTLE (Hydroxyurea Study of Long-termEffects), SWiTCH (StrokeWith Transfusions Changing to Hydroxyurea) and TWiTCH (TCDWith Transfusions Changing to Hydroxyurea) clinical trials. It also associated with a small protective effect against albuminuria in participants from the HUSTLE and TWiTCH studies.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal neutrophil cell number [HP:0011991]
Abnormal white blood cell count [HP:0011893]
Albuminuria [HP:0012592]


Chromosome: 1
Locus: NG_011626.1
Locus Location: 5174
Size: 1 bp
Located at: ACKR1
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
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. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
Created on 2017-03-13 15:08:12, Last reviewed on 2017-03-13 16:21:59 (Show full history)

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