Variant (rsID / SNP)
rs1060503213
rs1060503213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,081. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 9:135779081
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.2165del (p.Lys722fs)
Associated conditions / phenotypes
Tuberous sclerosis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.