rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
|
30420926 |
2018 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F).
|
24247255 |
2014 |
rs267607087
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F).
|
24247255 |
2014 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F).
|
24247255 |
2014 |
rs267607087
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
|
23454272 |
2013 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
rs267607087
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
|
21618344 |
2011 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
|
21618344 |
2011 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
|
20504773 |
2010 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
|
19651702 |
2009 |
rs267607087
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
|
19651702 |
2009 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
|
19132419 |
2009 |
rs267607087
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
|
11242114 |
2001 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
|
30420926 |
2018 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
|
24247255 |
2014 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
|
21618344 |
2011 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
|
20504773 |
2010 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
|
19132419 |
2009 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
|
19651702 |
2009 |
rs267607088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
|
11242114 |
2001 |
rs267607088
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
|
26681808 |
2016 |
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
rs119482082
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In mice bearing a transgene expressing the C133W SPTLC1 mutant linked to HSAN1, a 10% L-serine–enriched diet reduced dSL levels.
|
22045570 |
2011 |