NM_000059.4(BRCA2):c.7479G>A (p.Met2493Ile) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000690785.14
Allele description [Variation Report for NM_000059.4(BRCA2):c.7479G>A (p.Met2493Ile)]
NM_000059.4(BRCA2):c.7479G>A (p.Met2493Ile)
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
-
TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 [Equus caballus]
TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 [Equus caballus]Gene ID:100062494Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024