NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jun 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000567321.11
Allele description [Variation Report for NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)]
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
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
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Xerocrassa rhithymna]
cytochrome c oxidase subunit I, partial (mitochondrion) [Xerocrassa rhithymna]gi|258517643|gb|ACV73311.1|Protein
-
COX2 [Dogania subplana]
COX2 [Dogania subplana]Gene ID:803313Gene
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024