CDKN1C Chromosome 11
Cyclin dependent kinase inhibitor 1C
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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 |
|---|---|---|---|
| RS786205237 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS786205239 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS786205240 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS786205241 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS797045445 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, CDKN1C-related disorder, Beckwith-Wiedemann syndrome |
| RS897964106 | Health Risk | Pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS2494388249 | Health Risk | Pathogenic/Likely pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS483352970 | Health Risk | Pathogenic/Likely pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS759365577 | Health Risk | Pathogenic/Likely pathogenic | Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |