NM_144997.7(FLCN):c.647C>T (p.Pro216Leu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002356196.2
Allele description [Variation Report for NM_144997.7(FLCN):c.647C>T (p.Pro216Leu)]
NM_144997.7(FLCN):c.647C>T (p.Pro216Leu)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
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eukaryotic translation initiation factor 4 gamma 3 isoform X23 [Mustela putorius...
eukaryotic translation initiation factor 4 gamma 3 isoform X23 [Mustela putorius furo]gi|2130921316|ref|XP_044919842.1|Protein
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PREDICTED: Mustela putorius furo eukaryotic translation initiation factor 4 gamm...
PREDICTED: Mustela putorius furo eukaryotic translation initiation factor 4 gamma 3 (EIF4G3), transcript variant X5, mRNAgi|2130921250|ref|XM_045063889.1|Nucleotide
-
eukaryotic translation initiation factor 4 gamma 3 isoform X11 [Mustela putorius...
eukaryotic translation initiation factor 4 gamma 3 isoform X11 [Mustela putorius furo]gi|2130921275|ref|XP_044919830.1|Protein
-
eukaryotic translation initiation factor 4 gamma 3 isoform X8 [Mustela putorius ...
eukaryotic translation initiation factor 4 gamma 3 isoform X8 [Mustela putorius furo]gi|2130921263|ref|XP_044919827.1|Protein
-
eukaryotic translation initiation factor 4 gamma 3 isoform X17 [Mustela putorius...
eukaryotic translation initiation factor 4 gamma 3 isoform X17 [Mustela putorius furo]gi|2130921293|ref|XP_044919836.1|Protein
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Last Updated: Sep 29, 2024