IthaID: 2789



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs3074372 HGVS Name: NG_023030.1:g.4828_4829insGT

Context nucleotide sequence:
tgtgtgtgtgtgtgtgtgtgtgtgt [-/GT] tTTCTCTAAAAGTCCTATGGCCAGA (Strand: +)

Comments: The variant is a (GT)n dinucleotide repeat located in the promoter region of the HMOX1 gene. It associated with hospitalization rates for acute chest syndrome in children with sickle cell disease or sickle β0 thalassemia acquired from the Silent Cerebral Infarct Transfusion (SIT) Trial (n=924).

External Links

Location

Chromosome: 22
Locus: NG_023030.1
Locus Location: 4828
Size: 2 bp
Located at: HMOX1
Specific Location: Promoter

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Northern American, European
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Bean CJ, Boulet SL, Ellingsen D, Pyle ME, Barron-Casella EA, Casella JF, Payne AB, Driggers J, Trau HA, Yang G, Jones K, Ofori-Acquah SF, Hooper WC, DeBaun MR, Heme oxygenase-1 gene promoter polymorphism is associated with reduced incidence of acute chest syndrome among children with sickle cell disease., Blood , 120(18), 3822-8, 2012 PubMed
Created on 2016-05-16 16:12:44, Last reviewed on 2016-05-16 16:13:51 (Show full history)

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