rs786205790
- Uncertain significance
Your Genotype
Sign InDescription
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported as a heterozygous variant in an individual with a personal and family history of CPVT-like tachy-arrhythmias; no familial segregation testing was performed (Titus et al., 2019); of note, this publication lacks current peer review; This variant is associated with the following publications: (PMID: 32693635)
Reference Allele
C
Alternative Allele
A
Chromosome
1
Location
115738238
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)
Allele
A
Clinical Significance
Uncertain significance