NM_024675.4(PALB2):c.1317del (p.Phe440fs) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Apr 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001193417.4
Allele description [Variation Report for NM_024675.4(PALB2):c.1317del (p.Phe440fs)]
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
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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Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C), mRNA ...
Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C), mRNA (cDNA clone MGC:142031 IMAGE:8322523), complete cdsgi|109731166|gb|BC113471.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024