IthaID: 3350

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs13291830 HGVS Name: NC_000009.12:g.137383374C>T

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: SNP associated with absolute neutrophil count and white blood cell levels in children with sickle cell disease acquired from the HUSTLE (Hydroxyurea Study of Long-term Effects), SWiTCH (Stroke With Transfusions Changing to Hydroxyurea) and TWiTCH (TCD With Transfusions Changing to Hydroxyurea) clinical trials.

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]


Chromosome: 9
Locus Location: N/A
Size: 1 bp
Located at: EXD3
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African-American
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

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
Created on 2019-03-27 12:48:59, Last reviewed on 2019-03-27 13:40:06 (Show full history)

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