NM_000059.4(BRCA2):c.3489T>C (p.Asp1163=) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003038652.2
Allele description [Variation Report for NM_000059.4(BRCA2):c.3489T>C (p.Asp1163=)]
NM_000059.4(BRCA2):c.3489T>C (p.Asp1163=)
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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RecName: Full=Uncharacterized amino-acid permease C965.11c
RecName: Full=Uncharacterized amino-acid permease C965.11cgi|15214363|sp|O59831.1|YCUB_SCHPOProtein
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Homo sapiens collagen, type IX, alpha 1, mRNA (cDNA clone IMAGE:4392252), comple...
Homo sapiens collagen, type IX, alpha 1, mRNA (cDNA clone IMAGE:4392252), complete cdsgi|15929965|gb|BC015409.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024