IthaID: 3338

Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs3024997 HGVS Name: NG_008732.1:g.12155G>A

Context nucleotide sequence:

Comments: SNP (G>A) was found to be strongly associated with low HbF levels and the severe phenotype of β-thalassaemia major.

External Links


Chromosome: 6
Locus: NG_008732.1
Locus Location: 12155
Size: 1 bp
Located at: VEGFA
Specific Location: Intron 2


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

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

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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 17:07:43, Last reviewed on 2019-05-20 16:07:21 (Show full history)

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