rs267606822
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606822
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
20690116
2010
rs267606822
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
20518025
2010
rs267606824
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606824
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
20690116
2010
rs267606824
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
20518025
2010
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
20690116
2010
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
20518025
2010
rs267606822
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
G
0.800
CausalMutation
CLINVAR
rs267606824
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
T
0.800
CausalMutation
CLINVAR
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
G
0.800
CausalMutation
CLINVAR
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
T
0.800
CausalMutation
CLINVAR
rs267606823
×
Entrez Id:
55640
Gene Symbol:
FLVCR2
FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.700
GeneticVariation
UNIPROT
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
20518025
2010
rs267606823
×
Entrez Id:
55640
Gene Symbol:
FLVCR2
FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.700
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606823
×
Entrez Id:
55640
Gene Symbol:
FLVCR2
FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.700
GeneticVariation
UNIPROT
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
20690116
2010
rs138495705
FLVCR2;LOC102724153
Encephaloclastic Proliferative Vasculopathy
A
0.700
CausalMutation
CLINVAR
rs759296326
FLVCR2;LOC102724153
Encephaloclastic Proliferative Vasculopathy
G
0.700
CausalMutation
CLINVAR
rs780523767
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
C
0.700
CausalMutation
CLINVAR
rs267606825
TTLL5;FLVCR2
Fowler syndrome
0.010
GeneticVariation
BEFREE
Investigation with whole-exome sequencing (WES) revealed, in both patients, a homozygous pathogenic mutation in FLVCR2, c.1289C>T , compatible with a diagnosis of Fowler syndrome .
25677735
2016