rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
A |
0.800 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
|
29753808 |
2018 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
A |
0.800 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
|
29753808 |
2018 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
T |
0.800 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
|
29753808 |
2018 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
|
24456027 |
2014 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
|
24456027 |
2014 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
|
24456027 |
2014 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
|
22994404 |
2012 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
|
22994404 |
2012 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
|
22994404 |
2012 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
|
16409206 |
2006 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
|
16409206 |
2006 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
|
16409206 |
2006 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.
|
12773530 |
2003 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
|
14635117 |
2003 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.
|
12773530 |
2003 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
|
14635117 |
2003 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.
|
12773530 |
2003 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
|
14635117 |
2003 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
|
8755917 |
1996 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
|
8755917 |
1996 |
rs28940870
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
|
8755917 |
1996 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.
|
8529136 |
1995 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
|
7814636 |
1995 |
rs121907948
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
|
7883978 |
1995 |
rs281875170
|
SERPING1
|
Hereditary Angioedema Type I
|
|
0.800 |
GeneticVariation |
UNIPROT |
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
|
7814636 |
1995 |