NM_000059.4(BRCA2):c.4256A>T (p.Lys1419Ile) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 20, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000797911.7
Allele description [Variation Report for NM_000059.4(BRCA2):c.4256A>T (p.Lys1419Ile)]
NM_000059.4(BRCA2):c.4256A>T (p.Lys1419Ile)
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
-
cytochrome b, partial (mitochondrion) [Heterobranchus longifilis]
cytochrome b, partial (mitochondrion) [Heterobranchus longifilis]gi|1534466656|gb|AZL57033.1|Protein
-
GAU1 GALNT8 antisense upstream 1 [Homo sapiens]
GAU1 GALNT8 antisense upstream 1 [Homo sapiens]Gene ID:101929549Gene
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Last Updated: Sep 29, 2024