IthaID: 2623


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs713753 HGVS Name: NG_023228.1:g.14418C>T

Context nucleotide sequence:
CTCCAGGTCAAAGGTGGGGAACCAA [C/T] ACCAAGATCCTGCCCAAAGGCCCAG (Strand: +)

Also known as:

Comments: SNP associated with focal segmental glomerulosclerosis (FSGS) in African Americans (56 cases; 1827 controls).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Focal segmental glomerulosclerosis [HP:0000097]

Location

Chromosome: 22
Locus: NG_023228.1
Locus Location: 14418
Size: 1 bp
Located at: APOL1
Specific Location: Intron

Other details

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

Publications / Origin

  1. Genovese G, Tonna SJ, Knob AU, Appel GB, Katz A, Bernhardy AJ, Needham AW, Lazarus R, Pollak MR, A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9., Kidney Int. , 78(7), 698-704, 2010
Created on 2016-05-10 12:23:24, Last reviewed on 2016-05-25 09:07:30 (Show full history)

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