IthaID: 2782

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7203560 HGVS Name: NG_029669.1:g.9308A>C

Context nucleotide sequence:

Also known as:

Comments: SNP associated with haemolytic anaemia in the Cooperative Study of Sickle Cell Disease (CSSCD; n=1117), the Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy (Walk-PHaSST) study (n=449), as well as in a cohort of SCA patients from London, UK (n=213). The haemolytic score was derived from reticulocyte count, serum bilirubin, lactate dehydrogenase (LDH), and aspartate transaminase (AST) levels. SNP significantly associated with a lower level of each of the four haemolytic markers in the CSSCD study.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Bilirubin levels
Reticulocytopenia [HP:0001896]


Chromosome: 16
Locus: NG_029669.1
Locus Location: 9308
Size: 1 bp
Located at: NPRL3
Specific Location: Intron 2

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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2016-05-16 14:48:23, Last reviewed on 2019-12-23 12:36:23 (Show full history)

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