Variant (rsID / SNP)
rs45517179
rs45517179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,114,342. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2114342
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
- Allele change
- Nonsense_R505X
Associated conditions / phenotypes
Tuberous sclerosis 2|Tuberous sclerosis syndrome|Lymphangiomyomatosis|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis|Tuberous sclerosis 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.