Variant (rsID / SNP)
rs796053505
rs796053505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,131,781. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TSC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 16:2131781
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
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.