IthaID: 3205
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2814778 | HGVS Name: | NG_011626.2:g.5174T>C |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGCTGTCAGCGCCTGTGCTTCCAAG [A/G] TAAGAGCCAAGGACTAATGAGGGCC (Strand: -)
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.
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] Albuminuria [HP:0012592] |
Location
| 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
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 2017-03-13 15:08:12,
Last reviewed on 2017-03-13 16:21:59 (Show full history)
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