Variant: rs104894668 

    present in Gene: CRLF1
    present in Chromosome: 19
    Position on Chromosome: 18594338
    Alleles of this Variant: A/C

rs104894668 in CRLF1 gene and COLD-INDUCED SWEATING SYNDROME 1 PMID 17436251 2007 Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

PMID 21326283 2011 Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

PMID 12509788 2003 Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

PMID 16952376 2006 Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

PMID 24488861 2014 Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

PMID 17436252 2007 Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

PMID 23026229 2013 Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.