IthaID: 3499


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10513478 HGVS Name: NC_000003.12:g.155522876C>T

Context nucleotide sequence:
TATAGAGTTACAGAAAGAAG [C>T] GATGAGGCATGTTTTTAAGTC (Strand: +)

Also known as:

Comments: SNP associated with painful episodes in patients from the Cooperative Study of Sickle Cell Disease (CSSCD, n=1514). The association was not replicated in two other SCD datasets, including independent patients from the CSSCD cohort.

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: Pain [HP:0012531]

Location

Chromosome: 3
Locus: NM_001130960.2
Locus Location: N/A
Size: 1 bp
Located at: PLCH1
Specific Location: Intron 10

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 2019-11-26 12:36:35, Last reviewed on (Show full history)

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