rs202181557
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Reference Allele
G
Alternative Allele
A
Chromosome
X
Location
154366016
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1429+8C>T
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity