NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter) AND Tuberous sclerosis 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001042431.6
Allele description [Variation Report for NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter)]
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024