NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) AND COL2A1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004544528.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)]
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
Condition(s)
- Name:
- COL2A1-related disorder
- Synonyms:
- COL2A1-related condition; COL2A1-related disorders
- Identifiers:
-
RecName: Full=Lymphotoxin-beta; Short=LT-beta; AltName: Full=Tumor necrosis fact...
RecName: Full=Lymphotoxin-beta; Short=LT-beta; AltName: Full=Tumor necrosis factor C; Short=TNF-C; AltName: Full=Tumor necrosis factor ligand superfamily member 3gi|549088|sp|Q06643.1|TNFC_HUMANProtein
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Last Updated: Jul 23, 2024