G81D (p.Gly81Asp) variant of TSC1 (Hamartin)
G81D (p.Gly81Asp) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome. The record also includes structural context.
G81D (p.Gly81Asp) variant details
- p.Gly81Asp
- Ensembl rs2132237334
- Likely pathogenic
- Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Tuberous sclerosis 1; Hereditary cancer-predisposing syndrome)
- UniProt: Likely pathogenic
- Structural context available