N47H (p.Asn47His) variant of OTC (P00480)
N47H (p.Asn47His) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency; not specified. The record also includes published literature and structural context.
N47H (p.Asn47His) variant details
- p.Asn47His
- rs2519950651
- ClinGen CA412716055
- ClinVar RCV002791482
- ClinVar RCV004690326
- Uncertain significance
- Ornithine carbamoyltransferase deficiency; not specified
- Missense
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency; not specified)
- EBI: Variant of uncertain significance (in OTCD)
- UniProt: Uncertain significance (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)