NM_000455.5(STK11):c.734+5G>A AND Peutz-Jeghers syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003064528.2
Allele description [Variation Report for NM_000455.5(STK11):c.734+5G>A]
NM_000455.5(STK11):c.734+5G>A
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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PREDICTED: hypothetical protein [Ornithorhynchus anatinus]
PREDICTED: hypothetical protein [Ornithorhynchus anatinus]gi|149412135|ref|XP_001505906.1|Protein
-
MAG: Bdellovibrio sp. CG_4_9_14_3_um_filter_39_7 CG_4_9_14_3_um_filter_150_scaff...
MAG: Bdellovibrio sp. CG_4_9_14_3_um_filter_39_7 CG_4_9_14_3_um_filter_150_scaffold_5926_c, whole genome shotgun sequencegi|1278648194|gb|PFTX01000011.1||gn :PFTX01|CG_4_9_14_3_um_filter_150_scaffold_5926_cNucleotide
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PREDICTED: Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), transcri...
PREDICTED: Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), transcript variant X5, mRNAgi|2462629291|ref|XM_054326978.1|Nucleotide
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Last Updated: Feb 14, 2024