rs886044859
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Reference Allele
C
Alternative Allele
T
Chromosome
X
Location
154366627
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity