rs1060499581
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554675388
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
|
19945614 |
2010 |
rs1554675388
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
|
10652002 |
2000 |
rs1554675388
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.
|
8830774 |
1996 |
rs1554675388
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
|
23289980 |
2013 |
rs1554689309
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
CausalMutation |
CLINVAR |
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
|
15654962 |
2005 |
rs1554689309
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
CausalMutation |
CLINVAR |
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
|
19945614 |
2010 |
rs1554689309
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
CausalMutation |
CLINVAR |
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.
|
8830774 |
1996 |
rs387906801
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387906802
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs786205253
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554683108
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
AA |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
|
23289980 |
2013 |
rs1554683108
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
AA |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
|
10652002 |
2000 |
rs786205251
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
AGGATCTCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111730406
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
|
23289980 |
2013 |
rs786205254
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs864309674
|
Entrez Id: |
5339 |
Gene Symbol: |
PLEC |
PLEC
|
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|