NM_000455.5(STK11):c.920+7G>C AND Peutz-Jeghers syndrome
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000288977.22
Allele description [Variation Report for NM_000455.5(STK11):c.920+7G>C]
NM_000455.5(STK11):c.920+7G>C
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
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Decapoda sp. KSA_1713]
cytochrome c oxidase subunit I, partial (mitochondrion) [Decapoda sp. KSA_1713]gi|1402364486|gb|AWU57254.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024