Variant (rsID / SNP)
rs878854118
rs878854118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,453. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 16:2138453
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.5266del (p.Glu1756fs)
Associated conditions / phenotypes
Tuberous sclerosis 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.