Variant (rsID / SNP)
rs200615848
rs200615848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNA. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FLNABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Cytoband
- Xq28
- HGVS
- NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
- Allele change
- Missense_D1332G
Associated conditions / phenotypes
Cardiovascular phenotype|Melnick-Needles syndrome|Frontometaphyseal dysplasia|Heterotopia, periventricular, X-linked dominant|Oto-palato-digital syndrome, type II|Aortic aneurysm, familial thoracic 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.