Variant (rsID / SNP)
rs45517112
rs45517112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,105,498. The table records no clinical significance for this variant.
Reference-table entries
TSC2Not classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2105498
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
- Allele change
- Nonsense_E193X
Associated conditions / phenotypes
Tuberous sclerosis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.