NM_000455.5(STK11):c.1257C>T (p.Ser419=) AND Peutz-Jeghers syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083993.10
Allele description [Variation Report for NM_000455.5(STK11):c.1257C>T (p.Ser419=)]
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
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
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N-acetylglutamate synthase [Advenella incenata]
N-acetylglutamate synthase [Advenella incenata]gi|1577205976|gb|RZT93110.1||gnl|WG O|2806273789Protein
-
glycosyltransferase involved in cell wall biosynthesis [Advenella incenata]
glycosyltransferase involved in cell wall biosynthesis [Advenella incenata]gi|1577205979|gb|RZT93113.1||gnl|WG O|2806273792Protein
-
putrescine transport system permease protein [Advenella incenata]
putrescine transport system permease protein [Advenella incenata]gi|1577205970|gb|RZT93104.1||gnl|WG O|2806273783Protein
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subfamily B ATP-binding cassette protein MsbA [Advenella incenata]
subfamily B ATP-binding cassette protein MsbA [Advenella incenata]gi|1577205985|gb|RZT93119.1||gnl|WG O|2806273799Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024