rs797045163
- Pathogenic
Your Genotype
Sign InDescription
Reference Allele
C
Alternative Allele
G
Chromosome
X
Location
154367842
Variant Type
SNP
Genes
Phenotypes
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME
ClinVar
Name
NM_001110556.2(FLNA):c.622G>C (p.Gly208Arg)
Allele
G
Clinical Significance
Pathogenic