NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002540525.2
Allele description [Variation Report for NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)]
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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transcription antitermination protein NusG, transcriptional antiterminator NusG ...
transcription antitermination protein NusG, transcriptional antiterminator NusG [uncultured Gemmatimonadetes bacterium Rifle_16ft_4_minimus_1650]gi|874574206|gnl|BanfieldUCB|Rifle_ 4_minimus_1650_24|gb|AKQ01329.1|Protein
-
"[925607-98-3]"[CompleteSynonym] (1)
PubChem Compound
-
"[142-64-3]"[CompleteSynonym] (1)
PubChem Compound
-
"129352-51-8"[CompleteSynonym] (0)
PubChem Compound
-
"35878-39-8"[CompleteSynonym] (1)
PubChem Compound
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See more...Assertion and evidence details
Last Updated: May 1, 2024