NM_000548.5(TSC2):c.1716+15C>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482614.1
Allele description [Variation Report for NM_000548.5(TSC2):c.1716+15C>G]
NM_000548.5(TSC2):c.1716+15C>G
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
-
Peptidyl-tRNA hydrolase II (PTH2) family protein [Arabidopsis thaliana]
Peptidyl-tRNA hydrolase II (PTH2) family protein [Arabidopsis thaliana]gi|240256128|ref|NP_567907.4|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024