NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000496306.17
Allele description [Variation Report for NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)]
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
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
-
148190 (1)
OMIM
-
129750 (1)
OMIM
-
Cavia porcellus mRNA for neuroglobin (ngb gene)
Cavia porcellus mRNA for neuroglobin (ngb gene)gi|49640130|emb|AJ781213.1|Nucleotide
-
O.cuniculus mRNA for eukaryotic intitation factor 2 beta (eIF-2 beta)
O.cuniculus mRNA for eukaryotic intitation factor 2 beta (eIF-2 beta)gi|415860|emb|X73836.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024