NM_000455.5(STK11):c.1186G>C (p.Glu396Gln) AND Peutz-Jeghers syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000795016.6
Allele description [Variation Report for NM_000455.5(STK11):c.1186G>C (p.Glu396Gln)]
NM_000455.5(STK11):c.1186G>C (p.Glu396Gln)
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: Jun 17, 2024