NM_000548.5(TSC2):c.5199C>A (p.Thr1733=) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004022584.1
Allele description [Variation Report for NM_000548.5(TSC2):c.5199C>A (p.Thr1733=)]
NM_000548.5(TSC2):c.5199C>A (p.Thr1733=)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
PREDICTED: Homo sapiens calcitonin receptor like receptor (CALCRL), transcript v...
PREDICTED: Homo sapiens calcitonin receptor like receptor (CALCRL), transcript variant X1, mRNAgi|2217324926|ref|XM_005246232.4|Nucleotide
-
Homo sapiens abhydrolase domain containing 11 (ABHD11), transcript variant 10, n...
Homo sapiens abhydrolase domain containing 11 (ABHD11), transcript variant 10, non-coding RNAgi|1887096829|ref|NR_135627.2|Nucleotide
-
vomeronasal 2, receptor 32 precursor [Mus musculus]
vomeronasal 2, receptor 32 precursor [Mus musculus]gi|157311608|ref|NP_001098533.1|Protein
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Last Updated: Sep 29, 2024