CDKN1C Chromosome 11
Cyclin dependent kinase inhibitor 1C
Upload your DNA to see your personal genotypes for variants in CDKN1C.
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 |
|---|---|---|---|
| RS2133784672 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133784715 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133784748 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, IMAGe syndrome, Beckwith-Wiedemann syndrome |
| RS2133785467 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133785530 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133785682 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133785693 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133785723 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133785734 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133785873 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133786067 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133786225 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2133786397 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494379970 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494379988 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494380076 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494380150 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494380322 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494383793 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494383846 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494384538 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494384555 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494384859 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494385326 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494385885 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494386494 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494386964 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494388585 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494389055 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494389952 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494389957 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494390803 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494390854 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494390913 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS267606716 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS318240750 | Health Risk | Pathogenic | IMAGe syndrome, Silver-Russell syndrome 1, Beckwith-Wiedemann syndrome |
| RS387906399 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS387907223 | Health Risk | Pathogenic | IMAGe syndrome, IMAGe syndrome |
| RS387907225 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Inborn genetic diseases, IMAGe syndrome |
| RS387907226 | Health Risk | Pathogenic | IMAGe syndrome, IMAGe syndrome |
| RS483352971 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS483352987 | Health Risk | Pathogenic | — |
| RS483352988 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS483352989 | Health Risk | Pathogenic | IMAGe syndrome, IMAGe syndrome |
| RS483352991 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS483352993 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS587777866 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS786205234 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS786205235 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS786205236 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |