NM_000455.5(STK11):c.450G>C (p.Val150=) AND Peutz-Jeghers syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002084684.5
Allele description [Variation Report for NM_000455.5(STK11):c.450G>C (p.Val150=)]
NM_000455.5(STK11):c.450G>C (p.Val150=)
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
-
Links from autonomous proteins to species level organisms for Pro... (1)
Links from autonomous proteins to species level organisms for Protein (Select 2620667128)SearchTaxonomy
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Last Updated: Feb 20, 2024