NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000762917.10
Allele description [Variation Report for NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)]
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
Condition(s)
- Name:
- Familial cancer of breast
- Synonyms:
- Breast cancer, familial; Hereditary breast cancer
- Identifiers:
- MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
- Name:
- Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
- Synonyms:
- Breast-ovarian cancer, familial 2
- Identifiers:
- MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555
- Name:
- Fanconi anemia complementation group D1
- Identifiers:
- MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724
- Name:
- Medulloblastoma (MDB)
- Synonyms:
- Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
- Identifiers:
- MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
- Name:
- Wilms tumor 1 (WT1)
- Synonyms:
- Wilms tumor, somatic
- Identifiers:
- MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070
- Name:
- Malignant tumor of prostate
- Synonyms:
- Prostate cancer
- Identifiers:
- MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125
-
luciferin 4-monooxygenase [Photinus pyralis]
luciferin 4-monooxygenase [Photinus pyralis]gi|1770318997|ref|XP_031329057.1|Protein
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Last Updated: Oct 26, 2024