Variant (rsID / SNP)
rs118203631
rs118203631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,172. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135779172
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
- Allele change
- Nonsense_R641X
Associated conditions / phenotypes
Tuberous sclerosis syndrome|Malignant tumor of urinary bladder|Tuberous sclerosis 1|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.