rs1057521615
- Uncertain significance
Your Genotype
Sign InDescription
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Reference Allele
A
Alternative Allele
G
Chromosome
X
Location
154366086
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001110556.2(FLNA):c.1367T>C (p.Val456Ala)
Allele
G
Clinical Significance
Uncertain significance