Variant: rs104895462 

    present in Gene: NOD2
    present in Chromosome: 16
    Position on Chromosome: 50710911
    Alleles of this Variant: C/T

rs104895462 in NOD2 gene and Regional enteritis PMID 17157607 2006 Blau syndrome associated with a CARD15/NOD2 mutation.

PMID 14522785 2003 Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.

PMID 11528384 2001 CARD15 mutations in Blau syndrome.

PMID 22509093 2012 NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.

PMID 15044951 2004 Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.

PMID 15459013 2005 Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

PMID 24713464 2014 Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.

PMID 25416713 2015 Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.

rs104895462 in NOD2 gene and SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) PMID 15044951 2004 Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.

PMID 24713464 2014 Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.

PMID 15459013 2005 Among 10 EOS cases retrospectively collected in Japan, heterozygous missense mutations were found in 9 cases; 4 showed a 1000C>T (R334W in amino acid change) that has been reported in BS, 4 showed novel 1487A>T (H496L), 1538T>C (M513T), 1813A>C (T605P), and 2010C>A (N670K), and 1 case showed double 1146C>G (D382E)/1834G>A (A612T) mutations on different alleles.

PMID 25416713 2015 Of the 31 patients, 11 carried the p.R334W NOD2 mutation, 9 the p.R334Q and 11 various other NOD2 missense mutations; 20 patients were sporadic and 11 from five BS pedigrees.

PMID 14522785 2003 Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.

PMID 22509093 2012 The R334W mutation in NOD2/CARD15 caused Blau syndrome in a Chinese pedigree.

PMID 17157607 2006 Blau syndrome associated with a CARD15/NOD2 mutation.

PMID 11528384 2001 CARD15 mutations in Blau syndrome.