Variant (rsID / SNP)
rs794727093
rs794727093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,112,488. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TSC2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2112488
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.1258-10C>G
- Allele change
- Silent
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.