Variant (rsID / SNP)
rs45517423
rs45517423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,570. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TSC2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2138570
- Cytoband
- 16p13.3
- HGVS
- NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
- Allele change
- Missense_R1729C
Associated conditions / phenotypes
Tuberous sclerosis syndrome|Tuberous sclerosis syndrome|Lymphangiomyomatosis|Tuberous sclerosis and lymphangiomyomatosis|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.