rs868994092
- Uncertain significance
Your Genotype
Sign InDescription
Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 659727; Landrum et al., 2016)
Reference Allele
G
Alternative Allele
A
T
Chromosome
X
Location
154365430
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp)
Allele
A
Clinical Significance
Uncertain significance