IthaID: 3466

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10399947 HGVS Name: NC_000001.11:g.150889484G>A

Also known as:

Comments: SNP associated with acute chest syndrome in patients from the Cooperative Study of Sickle Cell Disease (CSSCD) [discovery (n=1514) and replication (n=387) datasets]. No association was detected in two independent sickle cell disease (SCD) datasets acquired from the Adult Sickle Cell Clinic of Georgia Health Sciences University (GHSU) Sickle Cell Center (n=318) and the Duke SCD cohort (n=449).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome


Chromosome: 1
Locus: NR_148929.1
Locus Location: N/A
Size: 1 bp
Located at: CTXND2
Specific Location: Intron 1

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

Publications / Origin

  1. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013
Created on 2019-10-02 12:50:34, Last reviewed on 2019-10-15 09:51:29 (Show full history)

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