Variant (rsID / SNP)
rs1057518217
rs1057518217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,843. Clinical significance in the table: Pathogenic.
Reference-table entries
TSC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135779843
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.1998-2A>G
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.