IthaID: 3471


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3910551 HGVS Name: NG_029729.1:g.96079G>C

Also known as:

Comments: SNP associated with acute chest syndrome in sickle cell disease (SCD) patients from the Cooperative Study of Sickle Cell Disease (CSSCD, n=1514) and the Duke SCD study (n=449). The association was not replicated in two other SCD cohorts, including independent patients from CSSCD.

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: Acute chest syndrome

Location

Chromosome: 3
Locus: NG_029729.1
Locus Location: 96079
Size: 1 bp
Located at: ALCAM
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

In silico pathogenicity prediction

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 2019-10-03 12:25:52, Last reviewed on (Show full history)

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