Variant: rs147462227 

    present in Gene: PRF1
    present in Chromosome: 10
    Position on Chromosome: 70600458
    Alleles of this Variant: C/T

rs147462227 in PRF1 gene and HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 PMID 16278825 2006 Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

PMID 16374518 2006 Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

PMID 17873118 2008 Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

PMID 2618478 1989 [Ruptured aneurysm of the abdominal aorta. Successful treatment of potentially fatal postoperative complications].

PMID 21959744 2011 Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.

rs147462227 in PRF1 gene and Multiple congenital anomalies PMID 15755897 2005 A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.

PMID 18710388 2008 Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.

PMID 26605207 2015 Hemophagocytic Lymphohistiocytosis: A Series of Five Clinical Cases in Adult Patients at a Single Institution with a Review of the Literature.

PMID 16937360 2007 HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

PMID 21303357 2011 Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.

PMID 23690113 2013 Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis.

PMID 17266056 2007 Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.

PMID 23443029 2013 Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.