IthaID: 3357


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs17160348 HGVS Name: NC_000019.10:g.8261982C>A | NC_000019.10:g.8261982C>G | NC_000019.10:g.8261982C>T

Context nucleotide sequence:
GAAGAATCAGACTCCAGTGAGGAGG [A/C/G/T] GGCGGCGGCCCAGGAACCTCTGCAG (Strand: +)

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

Phenotype

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]

Location

Chromosome: 19
Locus:
Locus Location: N/A
Size: 1 bp
Located at: CERS4
Specific Location: Exon 12

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 13:43:30, Last reviewed on 2019-07-04 12:23:25 (Show full history)

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