NM_000059.4(BRCA2):c.4311T>C (p.Ser1437=) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003645273.1
Allele description [Variation Report for NM_000059.4(BRCA2):c.4311T>C (p.Ser1437=)]
NM_000059.4(BRCA2):c.4311T>C (p.Ser1437=)
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
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dai99a07.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048364 5' similar to ...
dai99a07.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048364 5' similar to TR:Q9QZP0 Q9QZP0 NEPHROCYSTIN. [1], mRNA sequencegi|17925876|gnl|dbEST|10655929|gb|B 36.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024