NM_000059.4(BRCA2):c.9739C>G (p.Gln3247Glu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001059184.7
Allele description [Variation Report for NM_000059.4(BRCA2):c.9739C>G (p.Gln3247Glu)]
NM_000059.4(BRCA2):c.9739C>G (p.Gln3247Glu)
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
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Eviota melasma isolate M2271 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2514225644|gb|OR088883.1|Nucleotide
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Last Updated: Sep 29, 2024