IthaID: 3894
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2073618 | HGVS Name: | NC_000008.11:g.118951813G>C |
Context nucleotide sequence:
TTACCACGAGCGCGCAGCACAGCAA [G>C] TTGTTCATTGTGGTCCCCGGAAACC (Strand: +)
Also known as:
Comments: Reported in pediatric beta-thalassemia patients with a higher incidence in those with low spine bone mineral density.
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: | 8 |
|---|---|
| Locus: | NG_012202.1 |
| Locus Location: | 5332 |
| Size: | 1 bp |
| Located at: | OPG |
| Specific Location: | Exon 1 |
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
- 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 12:23:35,
Last reviewed on (Show full history)
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