IthaID: 3339



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs2146323 HGVS Name: NG_008732.1:g.12143C>A

Context nucleotide sequence:
GGACTTACGTTAGATTTTGGAAGGA [A/C] TTGCCTGATTCGGAAGCTCCAAAGA (Strand: +)

Comments: SNP (C>A) strongly associated with high HbF levels in β-thalassaemia patients and hence, a milder clinical phenotype of the disease. The A allele also associated with hydroxyurea treatment efficacy (high HbF levels) in SCD/β-thalassaemia patients.

External Links

Location

Chromosome: 6
Locus: NG_008732.1
Locus Location: 12143
Size: 1 bp
Located at: VEGFA
Specific Location: Intron 2

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]
Hb F response to hydroxyurea

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Greek
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Chondrou V, Kolovos P, Sgourou A, Kourakli A, Pavlidaki A, Kastrinou V, John A, Symeonidis A, Ali BR, Papachatzopoulou A, Katsila T, Patrinos GP, Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients., Hum. Genomics , 11(1), 24, 2017 PubMed
Created on 2018-06-25 17:13:27, Last reviewed on 2019-05-20 16:10:28 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.