NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001019926.4
Allele description [Variation Report for NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)]
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)
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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Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 2, ...
Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 2, mRNAgi|116642880|ref|NM_022572.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024