Variant (rsID / SNP)
rs199755731
rs199755731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,171. 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
- 9:135779171
- Cytoband
- 9q34.13
- HGVS
- NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
- Allele change
- Missense_R641Q
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis|Tuberous sclerosis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.