NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003155937.1
Allele description [Variation Report for NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)]
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
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
-
secreted frizzled-related protein 1 [Passer montanus]
secreted frizzled-related protein 1 [Passer montanus]gi|1993810278|ref|XP_039572687.1|Protein
-
MYL2 [Nomascus leucogenys]
MYL2 [Nomascus leucogenys]Gene ID:100590389Gene
-
SFRP1 [Crocodylus porosus]
SFRP1 [Crocodylus porosus]Gene ID:109317294Gene
-
sft2d3 [Pundamilia nyererei]
sft2d3 [Pundamilia nyererei]Gene ID:102197851Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024