IthaID: 3901


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs77635018 HGVS Name: NC_000006.12:g.43846990C>A | NC_000006.12:g.43846990C>G | NC_000006.12:g.43846990C>T

Context nucleotide sequence:
GAGAGAAATAATCAGAAGTTACTA [ C/G/T/A] GCTGTTTTAACTGAGCATCAGTAAT (Strand: +)

Also known as:

Comments: SNV associated with priapism in a patient sample from the REDS-III Brazil SCD cohort. The minor allele had a protective effect against priapism.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Priapism [HP:0200023] [OMIM:176620]

Location

Chromosome: 6
Locus: NR_149142.1
Locus Location: N/A
Size: 1 bp
Located at: LINC02537
Specific Location: Intron 3

Other details

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

Publications / Origin

  1. Cintho Ozahata M, Page GP, Guo Y, Ferreira JE, Dinardo CL, Carneiro-Proietti ABF, Loureiro P, Mota RA, Rodrigues DOW, Belisario AR, Maximo C, Flor-Park MV, Custer B, Kelly S, Sabino EC, , Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study., J Sex Med, 16(12), 1988-1999, 2019
Created on 2022-03-24 16:38:19, Last reviewed on (Show full history)

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