NM_000059.4(BRCA2):c.7115C>T (p.Ser2372Leu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002301909.4
Allele description [Variation Report for NM_000059.4(BRCA2):c.7115C>T (p.Ser2372Leu)]
NM_000059.4(BRCA2):c.7115C>T (p.Ser2372Leu)
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
-
glycogen debranching enzyme isoform X3 [Apteryx rowi]
glycogen debranching enzyme isoform X3 [Apteryx rowi]gi|1444474949|ref|XP_025913461.1|Protein
-
AGENCOURT_6644654 NIH_MGC_122 Homo sapiens cDNA clone IMAGE:5766967 5', mRNA seq...
AGENCOURT_6644654 NIH_MGC_122 Homo sapiens cDNA clone IMAGE:5766967 5', mRNA sequencegi|19376946|gnl|dbEST|11609996|gb|B 67.1|Nucleotide
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Last Updated: Sep 29, 2024