NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001030716.2
Allele description [Variation Report for NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)]
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
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
-
Synthetic construct Homo sapiens clone IMAGE:100015375, MGC:183010 sperm associa...
Synthetic construct Homo sapiens clone IMAGE:100015375, MGC:183010 sperm associated antigen 17 (SPAG17) mRNA, encodes complete proteingi|225356467|gb|BC148427.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024