IthaID: 3086

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1800469 HGVS Name: NG_013364.1:g.4536T>C

Context nucleotide sequence:

Also known as:

Comments: The TGFB1 (-509)C allele is highly frequent among Brazilian patients with sickle cell disease (n=240).

External Links


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


Chromosome: 19
Locus: NG_013364.1
Locus Location: 4536
Size: 1 bp
Located at: TGFB1
Specific Location: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Torres LS, Belini Júnior E, Silva DG, Lobo CL, Ruiz MA, Bonini-Domingos CR, Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil., Genet. Mol. Res. , 12(4), 6762-6, 2013 PubMed
Created on 2016-09-12 16:43:05, Last reviewed on (Show full history)

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