IthaID: 3455

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs34510432 HGVS Name: NC_000019.10:g.18911007C>T

Protein sequence:

Also known as:

Comments: SNP associated with final HbF on hydroxyurea treatment in pediatric patients with sickle cell disease acquired from the Hydroxyurea Study of Long-Term Effects (HUSTLE; n=120) and the NHLBI-sponsored Stroke with Transfusions Changing to Hydroxyurea (SWiTCH; n=51).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F response to hydroxyurea


Chromosome: 19
Locus: NM_001330469.2
Locus Location: N/A
Size: 1 bp
Located at: COPE
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Publications / Origin

  1. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014
Created on 2019-09-24 16:26:33, Last reviewed on (Show full history)

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