IthaID: 3179



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs833068 HGVS Name: NG_008732.1:g.9575G>A

Context nucleotide sequence:
GACATGTCCCATTTGTGGGAACTGT [A/G] ACCCTTCCTGTGTGAGCTGGAGGCA (Strand: +)

Also known as: G398A

Comments: SNP associated with vaso-occlusive crisis in Bahraini with sickle cell anaemia.

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: Vaso-occlusive crisis

Location

Chromosome: 6
Locus: NG_008732.1
Locus Location: 9575
Size: 1 bp
Located at: VEGFA
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Al-Habboubi HH, Mahdi N, Abu-Hijleh TM, Abu-Hijleh FM, Sater MS, Almawi WY, The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease., Eur. J. Haematol. , 89(5), 403-9, 2012 PubMed
Created on 2017-02-14 14:45:52, Last reviewed on (Show full history)

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