Variant (rsID / SNP)
rs28935473
rs28935473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Pathogenic.
Reference-table entries
FLNAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
- Allele change
- Missense_S1199L
Associated conditions / phenotypes
Melnick-Needles syndrome|Oto-palato-digital syndrome, type II|Frontometaphyseal dysplasia|Melnick-Needles syndrome|Oto-palato-digital syndrome, type II|Heterotopia, periventricular, X-linked dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.