IthaID: 3895



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2073617 HGVS Name: NC_000008.11:g.118952044G>A

Context nucleotide sequence:
GGGGGGTGTGCAGAAAGCTCCAGG [G>A] TTAACGCTTTCAGGGCTGGGGCGG (Strand: +)

Also known as:

Comments: Reported in pediatric beta-thalassemia patients with a higher incidence in those with low spine bone mineral density.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Reduced bone mineral density [HP:0004349]

Location

Chromosome: 8
Locus: NG_012202.1
Locus Location: 5101
Size: 1 bp
Located at: OPG
Specific Location: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Youssry I, Saad N, Madboly M, Samy RM, Hamed ST, Tawfik H, Elbatrawy SR, Kaddah N, Abd Elaziz D, Bone health in pediatric transfusion-dependent beta-thalassemia: Circulating osteoprotegerin and RANKL system., Pediatr Blood Cancer, 69(1), e29377, 2022 PubMed
Created on 2022-02-28 12:29:19, Last reviewed on (Show full history)

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