rs104894201
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
|
14681890 |
2003 |
rs104894201
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alteration of protein-protein interactions of congenital cataract crystallin mutants.
|
12601044 |
2003 |
rs104894201
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
|
9731540 |
1998 |
rs104894201
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel CRYAB mutation resulting in multisystemic disease.
|
21920752 |
2012 |
rs150516929
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alpha B-crystallin mutation in dilated cardiomyopathy.
|
16483541 |
2006 |
rs150516929
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
|
0.800 |
GeneticVariation |
UNIPROT |
alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.
|
16793013 |
2006 |
rs141638421
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs104894201
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs150516929
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167341
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104894201
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Myofibrillar Myopathy
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894202
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167341
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel CRYAB mutation resulting in multisystemic disease.
|
21920752 |
2012 |
rs1114167341
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1.
|
23194663 |
2013 |
rs1114167341
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
|
28493373 |
2017 |
rs1114167341
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
|
26627873 |
2016 |
rs144451841
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Congenital cataract
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
|
26694549 |
2016 |
rs1566402514
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Alpha-B Crystallinopathy
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1566402656
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CATARACT 16, MULTIPLE TYPES
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs202024436
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Cardiomyopathies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs281865141
|
CRYAB;HSPB2;HSPB2-C11orf52
|
Myofibrillar Myopathy
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs281865141
|
CRYAB;HSPB2;HSPB2-C11orf52
|
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs281865142
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
G |
0.700 |
CausalMutation |
CLINVAR |
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
|
21130652 |
2011 |
rs281865142
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
Myofibrillar Myopathy
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs281865142
|
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
CARDIOMYOPATHY, DILATED, 1II
|
G |
0.700 |
CausalMutation |
CLINVAR |
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.
|
27226619 |
2016 |