rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
G
0.800
GeneticVariation
CLINVAR
Clinical application of whole-exome sequencing across clinical indications.
26633542
2016
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T
0.800
CausalMutation
CLINVAR
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
23418007
2013
rs121908202
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
A
0.800
GeneticVariation
CLINVAR
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
23266810
2013
rs398122959
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
0.800
GeneticVariation
UNIPROT
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
23418007
2013
rs119455954
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T
0.800
GeneticVariation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T
0.800
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
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs121908200
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908200
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs121908202
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs121908202
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908202
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
A
0.800
GeneticVariation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908204
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs121908204
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908204
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T
0.800
GeneticVariation
CLINVAR
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908205
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908205
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs28940573
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
rs28940573
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
21990111
2012
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T
0.800
CausalMutation
CLINVAR
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
20340139
2010
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
G
0.800
GeneticVariation
CLINVAR
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
20340139
2010
rs121908195
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
20340139
2010
rs121908200
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
20340139
2010
rs121908202
×
Entrez Id:
1200
Gene Symbol:
TPP1
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800
GeneticVariation
UNIPROT
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
20340139
2010