N27K (p.Asn27Lys) variant of TSC2 (Tuberin)
N27K (p.Asn27Lys) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tuberous sclerosis syndrome; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- rs2548350127
- ClinGen CA394301307
- ClinVar RCV003297083
- ClinVar RCV004009710
- Conflicting interpretations
- Tuberous sclerosis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Tuberous sclerosis syndrome; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)