Variant (rsID / SNP)
rs201126835
rs201126835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,134,991. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TSC2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2134991
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.4533C>T (p.Gly1511=)
- Allele change
- Synonymous_G1445G
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.