NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002477181.1
Allele description [Variation Report for NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)]
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
Condition(s)
- Name:
- Lymphangiomyomatosis (LAM)
- Synonyms:
- Lymphangioleiomyomatosis; Lymphangioleiomyomatosis, somatic
- Identifiers:
- MONDO: MONDO:0011705; MedGen: C0751674; Orphanet: 538; OMIM: 606690
- Name:
- Isolated focal cortical dysplasia type II (FCORD2)
- Synonyms:
- Focal cortical dysplasia of Taylor; Cortical dysplasia of Taylor; Focal cortical dysplasia type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011818; MedGen: C1846385; OMIM: 607341; Human Phenotype Ontology: HP:0032051
Assertion and evidence details
Last Updated: Jun 2, 2024