Variant (rsID / SNP)
rs397514874
rs397514874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,118. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135779118
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)
- Allele change
- Nonsense_Q659X
Associated conditions / phenotypes
Tuberous sclerosis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.