rs886037836
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A
0.700
CausalMutation
CLINVAR
rs878853151
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Mental Retardation
CA
0.700
CausalMutation
CLINVAR
rs878853141
KDM5C;MIR6894
Mental Retardation
G
0.700
CausalMutation
CLINVAR
rs782246658
KDM5C;MIR6895
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A
0.700
CausalMutation
CLINVAR
rs782205045
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T
0.700
CausalMutation
CLINVAR
rs587780372
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A
0.700
GeneticVariation
CLINVAR
rs387906729
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T
0.700
CausalMutation
CLINVAR
rs281860639
KDM5C;MIR6894
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T
0.700
CausalMutation
CLINVAR
rs281860639
KDM5C;MIR6894
Intellectual Disability
0.010
GeneticVariation
BEFREE
In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A ) in exon 15 of KDM5C gene with the intellectual disability phenotype.
21575681
2011
rs199422239
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
T
0.700
CausalMutation
CLINVAR
rs199422238
KDM5C;MIR6894
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A
0.700
CausalMutation
CLINVAR
rs199422237
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.800
GeneticVariation
UNIPROT
rs199422237
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
C
0.800
CausalMutation
CLINVAR
rs199422236
KDM5C;MIR6894
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
A
0.700
CausalMutation
CLINVAR
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
0.800
GeneticVariation
UNIPROT
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
G
0.800
CausalMutation
CLINVAR
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
27421841
2016
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
18697827
2008
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
15586325
2005
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
17468742
2007
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
23999528
2014
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
26919706
2016
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
18203167
2008
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
25666439
2015
rs199422235
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Dysmorphic features
G
0.700
GeneticVariation
CLINVAR
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
24583395
2014