rs104894385
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28940280
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs386833966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
rs386833966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
|
20052765 |
2010 |
rs386833966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
|
11971870 |
2002 |
rs386833966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
rs386833966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
rs386833966
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
|
20157158 |
2010 |
rs386833980
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
rs386833980
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
rs386833980
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
rs786204644
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
rs786204644
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
|
22532218 |
2012 |
rs794729218
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs386833979
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
rs104894386
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs386833967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
|
20157158 |
2010 |
rs386833967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.
|
20960652 |
2008 |
rs386833967
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
|
22532218 |
2012 |
rs386833969
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
|
20052765 |
2010 |
rs386833969
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
rs386833969
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
rs386833969
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
|
11971870 |
2002 |
rs386833969
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
|
12134079 |
2002 |
rs386833975
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|