NM_000455.5(STK11):c.1147C>T (p.Arg383Cys) AND Peutz-Jeghers syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000168106.21
Allele description [Variation Report for NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)]
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
Condition(s)
- Name:
- Peutz-Jeghers syndrome (PJS)
- Synonyms:
- Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome; Peutz-Jeghers polyposis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008280; MeSH: D010580; MedGen: C0031269; Orphanet: 2869; OMIM: 175200
Assertion and evidence details
Last Updated: Aug 18, 2024