CDKN1C Chromosome 11

Cyclin dependent kinase inhibitor 1C
159 variants 159 Health Risk

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What This Gene Does
This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Associated Conditions (8)
Beckwith-Wiedemann syndrome
IMAGe syndrome
Inborn genetic diseases
CDKN1C-related disorder
Differences in sex development
Hereditary cancer
Monogenic short statue
Silver-Russell syndrome 1
Key Variants
RS1060503855
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
Health Risk
RS1060503861
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
Health Risk
RS1261515352
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
Health Risk
RS1262607893
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
Health Risk
RS1281835164
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
Health Risk
RS1288020047
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, Inborn genetic diseases, Beckwith-Wiedemann syndrome
Health Risk
RS1301544231
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, Inborn genetic diseases, IMAGe syndrome
Health Risk
RS1302209410
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
Health Risk
RS1345683292
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, Inborn genetic diseases, CDKN1C-related disorder
Health Risk
RS1360965916
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
Health Risk
RS1361624164
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
Health Risk
RS1380480846
Conflicting classifications of pathogenicity
Beckwith-Wiedemann syndrome, CDKN1C-related disorder, IMAGe syndrome
Health Risk
All Variants (159)
RSID Category Clinical Significance Conditions
RS1060503855 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS1060503861 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS1261515352 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
RS1262607893 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS1281835164 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
RS1288020047 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, Beckwith-Wiedemann syndrome
RS1301544231 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, IMAGe syndrome
RS1302209410 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
RS1345683292 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, CDKN1C-related disorder
RS1360965916 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
RS1361624164 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS1380480846 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, IMAGe syndrome
RS1469652745 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS147317732 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS1486933065 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS1554937999 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1564928644 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS188494894 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS2133782940 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS2133783226 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS2133783326 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS2494379304 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS374634184 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, CDKN1C-related disorder
RS3852522 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS531059713 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
RS546016935 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, Beckwith-Wiedemann syndrome
RS565544512 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, IMAGe syndrome
RS754283907 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
RS755160554 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, Beckwith-Wiedemann syndrome
RS759134767 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
RS760540648 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS765542916 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Inborn genetic diseases
RS767656648 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS771450542 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Differences in sex development, Beckwith-Wiedemann syndrome
RS772684721 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, CDKN1C-related disorder
RS772704243 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
RS779172459 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS786205238 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS794726872 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
RS878853625 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS878853626 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome
RS878853629 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Hereditary cancer, Beckwith-Wiedemann syndrome
RS878853630 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, Beckwith-Wiedemann syndrome
RS878853632 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases, CDKN1C-related disorder
RS878853636 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome
RS878853637 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS889984547 Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1554937698 Health Risk Likely pathogenic IMAGe syndrome, IMAGe syndrome
RS1564929735 Health Risk Likely pathogenic —
RS1848883206 Health Risk Likely pathogenic Monogenic short statue, IMAGe syndrome, Monogenic short statue
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