NM_000548.5(TSC2):c.5217G>A (p.Lys1739=) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003362986.2
Allele description [Variation Report for NM_000548.5(TSC2):c.5217G>A (p.Lys1739=)]
NM_000548.5(TSC2):c.5217G>A (p.Lys1739=)
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
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Rattus norvegicus N-ethylmaleimide-sensitive factor attachment protein, alpha, m...
Rattus norvegicus N-ethylmaleimide-sensitive factor attachment protein, alpha, mRNA (cDNA clone MGC:72716 IMAGE:6921187), complete cdsgi|38648847|gb|BC063156.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024