Variant (rsID / SNP)
rs387906501
rs387906501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC16A2. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SLC16A2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Cytoband
- Xq13.2
- HGVS
- NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
Associated conditions / phenotypes
Allan-Herndon-Dudley syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.