Variant (rsID / SNP)
rs1173061992
rs1173061992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,104,372. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2104372
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.412G>T (p.Glu138Ter)
- Allele change
- Nonsense_E138X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.