rs137852973
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs137852975
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554982914
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777606
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new seipin-associated neurodegenerative syndrome.
|
23564749 |
2013 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
|
24604904 |
2014 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
|
16427281 |
2006 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.
|
25219579 |
2015 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.
|
25487175 |
2015 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin.
|
22045697 |
2012 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.
|
18585921 |
2008 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical and electrophysiological features in a French family presenting with seipinopathy.
|
25454168 |
2015 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
|
14981520 |
2004 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
|
14981520 |
2004 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
|
17486577 |
2007 |
rs587777606
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
|
26282322 |
2015 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.
|
21957196 |
2011 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.
|
21957196 |
2011 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
|
17387721 |
2007 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
|
17387721 |
2007 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.
|
24345054 |
2014 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
|
20598714 |
2010 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
|
15732094 |
2005 |
rs137852972
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
|
23553728 |
2013 |
rs137852973
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN.
|
26815532 |
2016 |