NM_000369.5(TSHR):c.1670T>G (p.Leu557Trp) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001374528.1
Allele description [Variation Report for NM_000369.5(TSHR):c.1670T>G (p.Leu557Trp)]
NM_000369.5(TSHR):c.1670T>G (p.Leu557Trp)
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
-
Chain A, SYNAPTOTAGMIN III
Chain A, SYNAPTOTAGMIN IIIgi|6980525|pdb|1DQV|AProtein
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024