Variant (rsID / SNP)
rs57108893
rs57108893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Benign.
Reference-table entries
FLNABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
- Allele change
- Missense_A1756T
Associated conditions / phenotypes
Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Cardiovascular phenotype|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.