rs202029322
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
ACMG categories: PM1,PP3
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Reference Allele
G
Alternative Allele
A
Chromosome
X
Location
154365248
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity