rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
25861866
2015
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
23660394
2013
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
11898126
2002
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
C
0.800
CausalMutation
CLINVAR
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
24123876
2013
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
17465020
2007
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
17101918
2006
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
15154114
2004
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
12210795
2002
rs122453114
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
25861866
2015
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
17101918
2006
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
11898126
2002
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
A
0.800
CausalMutation
CLINVAR
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
17465020
2007
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
23660394
2013
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
24123876
2013
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
15154114
2004
rs122453115
SLC6A8;PNCK
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
12210795
2002
rs122453116
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs122453116
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
24123876
2013
rs122453116
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
15154114
2004
rs122453116
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
12210795
2002
rs122453116
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
Creatine deficiency, X-linked
0.800
GeneticVariation
UNIPROT
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
17465020
2007