rs318240750
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Russell-Silver syndrome
0.010
GeneticVariation
BEFREE
We identified the novel c.836G>[G;T] (p.A</span>rg279Leu</sp an>) mutation in a familial case of intrauterine growt h retardation (IUGR) with RSS phenotype and no evidence of IMAGe.
24065356
2013
rs318240750
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
A
0.800
CausalMutation
CLINVAR
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs318240750
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
G
0.800
CausalMutation
CLINVAR
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs318240750
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.800
GeneticVariation
UNIPROT
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907223
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
C
0.800
CausalMutation
CLINVAR
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.
24098681
2013
rs387907223
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.800
GeneticVariation
UNIPROT
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907223
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
C
0.800
CausalMutation
CLINVAR
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907224
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.800
GeneticVariation
UNIPROT
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907224
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
G
0.800
CausalMutation
CLINVAR
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907225
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.800
GeneticVariation
UNIPROT
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907225
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
T
0.800
CausalMutation
CLINVAR
rs387907226
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.800
GeneticVariation
UNIPROT
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs387907226
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
C
0.800
CausalMutation
CLINVAR
The condition in this patient, IMAGe syndrome , is likely caused by the heterozygous mutation c.832A>G (p.Lys278Glu ) in the imprinted gene CDKN1C.
25614875
2014
rs387907226
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
C
0.800
CausalMutation
CLINVAR
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
22634751
2012
rs515726203
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.710
GeneticVariation
BEFREE
We identified a novel heterozygous mutation, c.815T>G (p.Ile272Ser ), in the CDKN1C gene in three siblings manifesting clinical symptoms associated with IMAGe syndrome and their mother (unaffected carrier).
24098681
2013
rs515726203
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
C
0.710
CausalMutation
CLINVAR
We identified a novel heterozygous mutation, c.815T>G (p.Ile272Ser ), in the CDKN1C gene in three siblings manifesting clinical symptoms associated with IMAGe syndrome and their mother (unaffected carrier).
24098681
2013
rs886037912
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
A
0.700
CausalMutation
CLINVAR
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
25057881
2014
rs318240750
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Fetal Growth Retardation
0.010
GeneticVariation
BEFREE
We identified the novel c.836G>[G;T] (p.Arg279Leu ) mutation in a familial case of intrauterine growth retardation (IUGR ) with RSS phenotype and no evidence of IMAGe.
24065356
2013
rs104894200
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
New p57KIP2 mutations in Beckwith-Wiedemann syndrome.
9341892
1997
rs137852766
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
A
0.700
CausalMutation
CLINVAR
rs1554937726
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
GCAC
0.700
GeneticVariation
CLINVAR
rs1554937847
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
CGGGGCGGGGGCCGGGGCCGGGGCCG
0.700
CausalMutation
CLINVAR
rs1554938087
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
rs1554938194
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
T
0.700
CausalMutation
CLINVAR
rs1554938197
×
Entrez Id:
1028
Gene Symbol:
CDKN1C
CDKN1C
Beckwith-Wiedemann Syndrome
CCCAGCTGGAA
0.700
CausalMutation
CLINVAR