PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs189650890
rs189650890
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE One patient had compound heterozygous mutations (S108N and T450M) in PRF1 as the background defect, and documented familial HLH type 2 (FHL2). 20092789 2009