rs1085307783
- Likely pathogenic
Your Genotype
Sign InDescription
Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28333917)
Reference Allele
C
Alternative Allele
T
Chromosome
X
Location
154368070
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg)
Allele
T
Clinical Significance
Likely pathogenic