NM_000400.4(ERCC2):c.1979C>A (p.Ala660Glu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002423633.2
Allele description [Variation Report for NM_000400.4(ERCC2):c.1979C>A (p.Ala660Glu)]
NM_000400.4(ERCC2):c.1979C>A (p.Ala660Glu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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RecName: Full=Insulin-like growth factor-binding protein 1; Short=IBP-1; Short=I...
RecName: Full=Insulin-like growth factor-binding protein 1; Short=IBP-1; Short=IGF-binding protein 1; Short=IGFBP-1; AltName: Full=Placental protein 12; Short=PP12; Flags: Precursorgi|124055|sp|P08833.1|IBP1_HUMANProtein
-
RecName: Full=Zinc finger protein 20; AltName: Full=Zinc finger protein KOX13
RecName: Full=Zinc finger protein 20; AltName: Full=Zinc finger protein KOX13gi|12643268|sp|P17024.2|ZNF20_HUMANProtein
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Epameibaphis sp. BIOUG213...
cytochrome oxidase subunit 1, partial (mitochondrion) [Epameibaphis sp. BIOUG21326-F05]gi|1398211316|gb|AWS07669.1|Protein
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Last Updated: May 1, 2024