NM_000455.5(STK11):c.1221G>C (p.Glu407Asp) AND Peutz-Jeghers syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001873138.6
Allele description [Variation Report for NM_000455.5(STK11):c.1221G>C (p.Glu407Asp)]
NM_000455.5(STK11):c.1221G>C (p.Glu407Asp)
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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lysophosphatidic acid receptor 4 [Molossus molossus]
lysophosphatidic acid receptor 4 [Molossus molossus]gi|1910880088|ref|XP_036126636.1|Protein
-
d.melanogaster 28s ribosomal rna gene 3' end, clone lambda-dmr 312
d.melanogaster 28s ribosomal rna gene 3' end, clone lambda-dmr 312gi|158241|gb|K00467.1|DRORG282Nucleotide
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RecName: Full=Protein TOC75, chloroplastic; AltName: Full=75 kDa chloroplast out...
RecName: Full=Protein TOC75, chloroplastic; AltName: Full=75 kDa chloroplast outer envelope protein; AltName: Full=75 kDa translocon at the outer-envelope membrane of chloroplasts; AltName: Full=Import intermediate-associated protein of 75 kDa; Flags: Precursorgi|75221490|sp|Q43715.1|TOC75_PEAProtein
-
signal transducer and activator of transcription 1-alpha/beta-like isoform X1 [S...
signal transducer and activator of transcription 1-alpha/beta-like isoform X1 [Salmo trutta]gi|1696209496|ref|XP_029631184.1|Protein
-
S41 family peptidase [Lysinibacillus capsici]
S41 family peptidase [Lysinibacillus capsici]gi|2212737575|gnl|PRJNA622823|ICJ70 0|gb|UNT53453.1|Protein
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Last Updated: Oct 8, 2024