Variant (rsID / SNP)
rs1064795285
rs1064795285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,782,694. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TSC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 9:135782694
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs)
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.