NM_000455.5(STK11):c.136A>C (p.Ile46Leu) AND Peutz-Jeghers syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004007308.2
Allele description [Variation Report for NM_000455.5(STK11):c.136A>C (p.Ile46Leu)]
NM_000455.5(STK11):c.136A>C (p.Ile46Leu)
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
-
PREDICTED: kin of IRRE-like protein 3 [Bison bison bison]
PREDICTED: kin of IRRE-like protein 3 [Bison bison bison]gi|742226717|ref|XP_010827792.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024