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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

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

In silico pathogenicity prediction

Publications / Origin

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)

A/A	Date	Curator(s)	Comments
1	2019-03-27 13:43:30	The IthaGenes Curation Team	Created
2	2019-07-04 12:23:25	The IthaGenes Curation Team	Reviewed. Phenotype added.

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