Variant (rsID / SNP)
rs878853282
rs878853282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRRS1L. Location: chromosome 9, position 111,903,746. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FRRS1LPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 9:111903746
- Cytoband
- 9q31.3
- HGVS
- NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 37|Seizure|Chorea|Progressive encephalopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.