NM_000059.4(BRCA2):c.2788T>C (p.Tyr930His) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003156822.3
Allele description [Variation Report for NM_000059.4(BRCA2):c.2788T>C (p.Tyr930His)]
NM_000059.4(BRCA2):c.2788T>C (p.Tyr930His)
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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Profile neighbors for GEO Profiles (Select 75510883) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 75505922) (20)
GEO Profiles
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Gene Links for GEO Profiles (Select 75521728) (1)
Gene
-
SNAP23 synaptosome associated protein 23 [Homo sapiens]
SNAP23 synaptosome associated protein 23 [Homo sapiens]Gene ID:8773Gene
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TTBK2 tau tubulin kinase 2 [Homo sapiens]
TTBK2 tau tubulin kinase 2 [Homo sapiens]Gene ID:146057Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024