IthaID: 3542
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7948471 | HGVS Name: | NC_000011.10:g.5450516G>A |
Context nucleotide sequence:
CCAGGGTCAGGACTCCTGACACCCTC [G>A] GGGTCCTTTCTTCTAAACCACCTGGTT (Strand: +)
Also known as:
Comments: SNP associated with haemolysis in sickle cell anaemia (SCA) in samples taken from the CSSCD (n=1117), Walk-PHaSST (n=449) and PUSH (n=296) studies, as well as in a cohort of SCA patients from London, UK (n=213).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Milton JN, Rooks H, Drasar E, McCabe EL, Baldwin CT, Melista E, Gordeuk VR, Nouraie M, Kato GR, Kato GJ, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Rana S, Castro O, Zhang Y, Thein SL, Sebastiani P, Gladwin MT, , Steinberg MH, Genetic determinants of haemolysis in sickle cell anaemia., Br. J. Haematol. , 161(2), 270-8, 2013
Created on 2019-12-13 10:08:32,
Last reviewed on (Show full history)
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