IthaID: 2789



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3074372 HGVS Name: NG_023030.1:g.4828_4829insGT

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

Also known as:

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). The long form (> 25 GT repeats) was found to be linked with increased HbF levels in a SCD cohort from India, but not significantly associated.

External Links

Phenotype

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

Location

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

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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
  2. Hariharan P, Chavan V, Nadkarni A, Significance of heme oxygenase-1(HMOX1) gene on fetal hemoglobin induction in sickle cell anemia patients., Sci Rep, 10(1), 18506, 2020 PubMed
Created on 2016-05-16 16:12:44, Last reviewed on 2020-11-12 08:56:13 (Show full history)

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