R393H (p.Arg393His) variant of MYCN (N-myc proto-oncogene protein)
R393H (p.Arg393His) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Feingold syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature.
R393H (p.Arg393His) variant details
- p.Arg393His
- rs104893646
- ClinGen CA257009
- cosmic curated COSV55260
- ClinVar RCV000014906
- Pathogenic
- not provided; Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- MutPred 0.95
- ClinVar: Pathogenic (not provided; Feingold syndrome type 1)
- EBI: Pathogenic (in FGLDS1)
- UniProt: Pathogenic (in FGLDS1)
- Cited in: MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. (PMID 15821734)
- Cited in: Expanding the clinical spectrum of MYCN-related Feingold syndrome. (PMID 16906565)