NM_000455.5(STK11):c.900C>T (p.Ile300=) AND Peutz-Jeghers syndrome
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085913.12
Allele description [Variation Report for NM_000455.5(STK11):c.900C>T (p.Ile300=)]
NM_000455.5(STK11):c.900C>T (p.Ile300=)
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
-
Fusarium vanettenii 77-13-4 uncharacterized protein (NECHADRAFT_12611), partial ...
Fusarium vanettenii 77-13-4 uncharacterized protein (NECHADRAFT_12611), partial mRNAgi|302880533|ref|XM_003039164.1|Nucleotide
-
Schizosaccharomyces pombe protein Pex14 (pex14), mRNA
Schizosaccharomyces pombe protein Pex14 (pex14), mRNAgi|2745685959|ref|NM_001022473.3|Nucleotide
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Last Updated: Oct 8, 2024