NM_000455.5(STK11):c.1186G>C (p.Glu396Gln) AND Peutz-Jeghers syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000795016.7
Allele description [Variation Report for NM_000455.5(STK11):c.1186G>C (p.Glu396Gln)]
NM_000455.5(STK11):c.1186G>C (p.Glu396Gln)
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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601790996F1 NCI_CGAP_Lu30 Mus musculus cDNA clone IMAGE:4021871 5', mRNA sequenc...
601790996F1 NCI_CGAP_Lu30 Mus musculus cDNA clone IMAGE:4021871 5', mRNA sequencegi|10982678|gnl|dbEST|6545930|gb|BF 8.1|Nucleotide
-
Homo sapiens delta like non-canonical Notch ligand 1 (DLK1), transcript variant ...
Homo sapiens delta like non-canonical Notch ligand 1 (DLK1), transcript variant 2, mRNAgi|1677529798|ref|NM_001317172.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024