IthaID: 3899

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3770138 HGVS Name: NC_000002.12:g.181461180C>T

Context nucleotide sequence:

Also known as:

Comments: rs3770138-T showed a positive association with overt ischemic stroke in pediatric patients with sickle cell anemia of sub-Saharan African ancestry in Portugal.

External Links


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


Chromosome: 2
Locus: NG_050623.1
Locus Location: 9289
Size: 1 bp
Located at: ITGA4
Specific Location: Intron 2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Silva M, Vargas S, Coelho A, Ferreira E, Mendonça J, Vieira L, Maia R, Dias A, Ferreira T, Morais A, Soares IM, Lavinha J, Silva R, Kjöllerström P, Faustino P, Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia., Blood Cells Mol Dis, 83(0), 102436, 2020 PubMed
Created on 2022-03-24 11:37:41, Last reviewed on 2022-03-24 11:42:08 (Show full history)

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