rs786205182
- Likely pathogenic
Your Genotype
Sign InDescription
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Reference Allele
A
Alternative Allele
T
Chromosome
X
Location
154364927
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter)
Allele
T
Clinical Significance
Likely pathogenic