IthaID: 3893


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs9533156 HGVS Name: NC_000013.11:g.42573535T>C

Context nucleotide sequence:
CACGCCCCTTTACCCTTTTCTCTGCAC [T>C] GTTTTCATCTTTATAAAGTCAGAGTT (Strand: +)

Also known as:

Comments: Associated with an increased risk of low bone mass density in pediatric beta-thalassemia patients.

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: Reduced bone mineral density [HP:0004349]

Location

Chromosome: 13
Locus: NG_008990.1
Locus Location: 15800
Size: 1 bp
Located at: RANKL
Specific Location: Intron

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

In silico pathogenicity prediction

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
Created on 2022-02-28 12:06:41, Last reviewed on (Show full history)

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