RAB27A, RAB27A, member RAS oncogene family, 5873

N. diseases: 108; N. variants: 13
Disease: Hemophagocytic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894500
rs104894500
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
CUI: C3887558
Disease:
Hemophagocytic Syndrome 		0.010 GeneticVariation BEFREE Here, we describe a new patient, possessing a hemophagocytic syndrome with a homozygous Q118X nonsense RAB27A mutation. 17255357 2007