Variant: rs137852972 

    present in Gene: BSCL2;HNRNPUL2-BSCL2
    present in Chromosome: 11
    Position on Chromosome: 62702499
    Alleles of this Variant: T/C

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16427281 2006 BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

PMID 25454168 2015 Clinical and electrophysiological features in a French family presenting with seipinopathy.

PMID 15732094 2005 Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

PMID 17387721 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

PMID 18585921 2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 25219579 2015 BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.

PMID 20598714 2010 N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.

PMID 22045697 2012 Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin.

PMID 24345054 2014 Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.

PMID 23553728 2013 Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

PMID 21957196 2011 Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and Spastic paraplegia 17 PMID 17387721 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

PMID 18790819 2009 Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

PMID 21750110 2011 Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'.

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 18585921 2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.