CDKN1C, cyclin dependent kinase inhibitor 1C, 1028

N. diseases: 298; N. variants: 32
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs515726203
rs515726203
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
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
dbSNP: rs515726203
rs515726203
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C1846009
Disease:
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