Variant (rsID / SNP)
rs118203657
rs118203657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,052. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TSC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135779052
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
- Allele change
- Missense_H681Y
Associated conditions / phenotypes
Focal cortical dysplasia of Taylor type 2B|Tuberous sclerosis 1|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.