D23N (p.Asp23Asn) variant of TSC1 (Hamartin)
D23N (p.Asp23Asn) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- Ensembl rs2132294833
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available