NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter) AND Tuberous sclerosis 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000689532.2
Allele description [Variation Report for NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)]
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023