IthaID: 3898


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1409419 HGVS Name: NC_000001.11:g.100717840T>C

Context nucleotide sequence:
AAGTAGAAAATATAGGCATATTAA [T>C] CAGTAAATGCAGAATGATAAATGCT (Strand: +)

Also known as:

Comments: 2KB Upstream Variant - T allele showed a positive association with overt ischemic stroke and high time averaged mean velocity (TAMMV) values obtained during transcranial Doppler (TCD) screening in pediatric patients with sickle cell anemia of sub-Saharan African ancestry in Portugal.

External Links

Phenotype

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

Location

Chromosome: 1
Locus: NG_023034.2
Locus Location: 3100
Size: 1 bp
Located at: VCAM1
Specific Location: N/A

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

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
Created on 2022-03-23 18:03:29, Last reviewed on 2022-03-24 11:46:16 (Show full history)

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