|
rs61757582
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
|
15896653 |
2005 |
|
rs61757582
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].
|
12818773 |
2003 |
|
rs61757582
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs121909768
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
|
17441222 |
2007 |
|
rs121909768
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
|
20556518 |
2010 |
|
rs121909768
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients.
|
16044199 |
2005 |
|
rs121909768
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs121909768
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome among Arabs.
|
21696385 |
2012 |
|
rs886041354
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs886041354
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
|
23293579 |
2012 |
|
rs886041354
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
|
15464432 |
2005 |
|
rs886041354
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs886041354
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs80338864
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
|
rs80338864
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
|
16181459 |
2005 |
|
rs80338864
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
|
12070263 |
2002 |
|
rs80338864
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
|
10602371 |
1999 |
|
rs80338864
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs80338864
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
|
10995508 |
2000 |
|
rs80338862
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
|
10896306 |
2000 |
|
rs80338862
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
|
15896653 |
2005 |
|
rs80338862
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
|
15013448 |
2004 |
|
rs80338862
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs80338862
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
|
22211794 |
2012 |
|
rs80338862
|
|
Smith-Lemli-Opitz Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].
|
12818773 |
2003 |