Variant (rsID / SNP)
rs118203550
rs118203550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,781,384. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 9:135781384
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
Associated conditions / phenotypes
Tuberous sclerosis syndrome|Tuberous sclerosis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.