NM_000455.5(STK11):c.1284G>A (p.Ser428=) AND Peutz-Jeghers syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (6 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000205545.31
Allele description [Variation Report for NM_000455.5(STK11):c.1284G>A (p.Ser428=)]
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
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: Nov 24, 2024