I1747N (p.Ile1747Asn) variant of TSC2 (Tuberin)
I1747N (p.Ile1747Asn) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tuberous sclerosis 2; not provided. The record also includes structural context.
I1747N (p.Ile1747Asn) variant details
- p.Ile1747Asn
- Ensembl rs2151632036
- Pathogenic/Likely pathogenic
- Tuberous sclerosis 2; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Tuberous sclerosis 2; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available