NM_000059.4(BRCA2):c.6348C>T (p.His2116=) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003531107.2
Allele description [Variation Report for NM_000059.4(BRCA2):c.6348C>T (p.His2116=)]
NM_000059.4(BRCA2):c.6348C>T (p.His2116=)
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
-
SRP219509 (11)
SRA
-
Carboxy-terminal processing protease CtpA precursor [Thalassoglobus polymorphus]
Carboxy-terminal processing protease CtpA precursor [Thalassoglobus polymorphus]gi|1712490996|gnl|DSMZ|Mal48_47810| T35504.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024