IthaID: 3581



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs1050829 HGVS Name: NG_009015.2:g.17296A>T | NG_009015.2:g.17296A>G

Context nucleotide sequence:
CCTACCAGCGCCTCAACAGCCACATG [A/G/T] ATGCCCTCCACCTGGGGTCACAGGCC (Strand: -)

Also known as:

Comments: SNP associated with MRA-defined cerebral vasculopathy in pediatric male patients with SCA from the Silent Infarct Transfusion (SIT) Trial. G6PD enzyme activity is decreased by about 30% when this variation is present.

External Links

Location

Chromosome: X
Locus: NG_009015.2
Locus Location: 17296
Size: 1 bp
Located at: G6PD
Specific Location: Exon 5

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Stroke [HP:0001297] [OMIM:601367]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Thangarajh M, Yang G, Fuchs D, Ponisio MR, McKinstry RC, Jaju A, Noetzel MJ, Casella JF, Barron-Casella E, Hooper WC, Boulet SL, Bean CJ, Pyle ME, Payne AB, Driggers J, Trau HA, Vendt BA, Rodeghier M, DeBaun MR, Magnetic resonance angiography-defined intracranial vasculopathy is associated with silent cerebral infarcts and glucose-6-phosphate dehydrogenase mutation in children with sickle cell anaemia., Br. J. Haematol., 159(3), 352-9, 2012 PubMed
Created on 2020-03-25 20:32:46, Last reviewed on 2020-03-30 16:09:13 (Show full history)

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