rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
|
22946748 |
2012 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Muscle hypotonia
|
AC |
0.700 |
CausalMutation |
CLINVAR |
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
|
18469813 |
2008 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
|
20713952 |
2010 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Muscle hypotonia
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
|
28462982 |
2017 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Epilepsy and mental retardation limited to females: an under-recognized disorder.
|
18234694 |
2008 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
|
18469813 |
2008 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Muscle hypotonia
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
|
20713952 |
2010 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
|
19214208 |
2009 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
The genetics of Dravet syndrome.
|
21463275 |
2011 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
|
27016041 |
2016 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
PCDH19-related epilepsy in two mosaic male patients.
|
26765483 |
2016 |
rs1555985372
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
rs1555985416
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
GCGGGT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555985543
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555985639
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
AT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555985780
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555985820
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
AA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569314152
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569314475
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569314809
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569315042
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569315156
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569315169
|
Entrez Id: |
57526 |
Gene Symbol: |
PCDH19 |
PCDH19
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|