IthaID: 2911

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: Sp1 polymorphism HGVS Name: NG_007400.1:g.6252G>T

Context nucleotide sequence:

Also known as: rs1800012

Comments: The Sp1 polymorphism associated with low bone mineral density and predisposition to osteoporosis in β-thalassaemia major cohorts from Italy (n=135) and Turkey (37 cases; 92 controls).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Osteoporosis [HP:0000939] [OMIM:166710]


Chromosome: 17
Locus: NG_007400.1
Locus Location: 6252
Size: 1 bp
Located at: COL1A1
Specific Location: Intron 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Arisal O, Deviren A, Fenerci EY, Hacihanefioglu S, Ulutin T, Erkmen S, Buyru N, Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia., Haematologia (Budap) , 32(4), 475-82, 2002 PubMed
  2. Guzeloglu-Kayisli O, Cetin Z, Keser I, Ozturk Z, Tuncer T, Canatan D, Luleci G, Relationship between SP1 polymorphism and osteoporosis in beta-thalassemia major patients., Pediatr Int , 50(4), 474-6, 2008 PubMed
  3. Hamed HM, Galal A, Ghamrawy ME, Abd El Azeem K, Hussein IR, Abd-Elgawad MF, An SP1-binding site polymorphism in the COLIAI gene and osteoporosis in Egyptian patients with thalassemia major., Blood Coagul. Fibrinolysis , 22(2), 81-5, 2011 PubMed
Created on 2016-05-23 17:46:54, Last reviewed on 2016-05-23 17:48:17 (Show full history)

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