rs460897
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
rs460184
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs777787526
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic expansion of DGKE-associated diseases.
|
24511134 |
2014 |
rs80356746
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80356747
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs460897
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Renal transplantation in patients with the S1191L mutation of the CFH gene carries a high risk of failure due to recurrence of aHUS in the renal graft.
|
19856002 |
2010 |
rs460897
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We describe a patient who, at 7 months of age, presented with aHUS associated with combined de novo complement factor H mutations (S1191L and V1197A) on the same allele.
|
18425537 |
2008 |
rs460897
|
|
|
0.750 |
GeneticVariation |
BEFREE |
This hybrid encodes a protein product identical to a functionally significant CFH mutant (c.3572C>T, S1191L and c.3590T>C, V1197A) that has been previously described in association with aHUS.
|
17076561 |
2006 |
rs460897
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We describe monozygotic female twins who presented at 5 years of age with factor H-related (c.3572 > T; Ser1191Leu) atypical hemolytic uremic syndrome within months of each other.
|
16431247 |
2006 |
rs460897
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We report the case of a 17-year-old girl with aHUS associated with a mutation in the gene for complement factor H (CFH; c.3572C>T, Ser1191Leu) who was highly dependent on plasma exchange.
|
19854549 |
2010 |
rs460184
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This hybrid encodes a protein product identical to a functionally significant CFH mutant (c.3572C>T, S1191L and c.3590T>C, V1197A) that has been previously described in association with aHUS.
|
17076561 |
2006 |
rs460184
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We describe a patient who, at 7 months of age, presented with aHUS associated with combined de novo complement factor H mutations (S1191L and V1197A) on the same allele.
|
18425537 |
2008 |
rs460184
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We reported here the clinical course of aHUS patients with CFH mutations (p.Glu936Asp, Val 1197Ala) and a novel mutation (Glu927Lys) which caused previously defined aHUS.
|
31705748 |
2019 |
rs138924661
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs148605410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs312262695
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs312262696
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs312262697
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs312262698
|
|
AT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs312262699
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs769742294
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience.
|
25899302 |
2016 |
rs769742294
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
|
20513133 |
2010 |
rs769742294
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
|
23431077 |
2013 |
rs769742294
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.
|
26307634 |
2015 |
rs769742294
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |