rs28942090
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121907931
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121907933
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121907934
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121907935
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555930118
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569174722
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs759244819
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs761221480
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28942090
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907933
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs121907934
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
|
12736397 |
2003 |
rs28942090
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907932
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907933
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs121907934
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
|
12217961 |
2002 |
rs28942090
|
|
|
0.810 |
GeneticVariation |
BEFREE |
As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig.
|
11983712 |
2002 |
rs28942090
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig.
|
11983712 |
2002 |
rs121907931
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
|
11983712 |
2002 |
rs121907932
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
|
11983712 |
2002 |
rs121907933
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
|
11983712 |
2002 |