Variant (rsID / SNP)
rs200130356
rs200130356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FLNAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
- Allele change
- Missense_Q1484R
Associated conditions / phenotypes
Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Melnick-Needles syndrome|Aortic dilatation|Cardiovascular phenotype|Connective tissue disorder|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.