The CDKN1C gene homepage

General information
Gene symbol CDKN1C
Gene name cyclin-dependent kinase inhibitor 1C (p57, Kip2)
Chromosome 11
Chromosomal band p15.5
Imprinted Imprinted, paternal
Genomic reference NG_008022.1
Transcript reference NM_000076.2
Exon/intron information NM_000076.2 exon/intron table
Associated with diseases BWS, ID, IMAGE, SRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Eamonn Maher
Total number of public variants reported 152
Unique public DNA variants reported 124
Individuals with public variants 108
Hidden variants 30
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated May 11, 2022
Version CDKN1C:220511

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000076.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/CDKN1C
HGNC 1786
Entrez Gene 1028
PubMed articles CDKN1C
OMIM - Gene 600856
OMIM - Diseases BWS (Beckwith-Wiedemann syndrome (BWS))
IMAGE (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE))
SRS (RSS)
HGMD CDKN1C
GeneCards CDKN1C
GeneTests CDKN1C
Orphanet CDKN1C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004875 11 transcript variant 1 NM_000076.2 NP_000067.1 152


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