rs863223629
- Uncertain significance
Your Genotype
Sign InDescription
Has not been previously published as pathogenic or benign to our knowledge; Not observed at 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
Reference Allele
G
Alternative Allele
A
Chromosome
X
Location
154367922
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001110556.2(FLNA):c.542C>T (p.Pro181Leu)
Allele
A
Clinical Significance
Uncertain significance