CDKN1C gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

CDKN1C (cyclin dependent kinase inhibitor 1C)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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CDKN1C gene homepage

General information
Gene symbol	CDKN1C
Gene name	cyclin dependent kinase inhibitor 1C
Chromosome	11
Chromosomal band	p15.4
Imprinted	Unknown
Genomic reference	LRG_533
Transcript reference	NM_000076.2, NM_001122630.1, NM_001122631.1
Associated with diseases	BWS, IMAGE
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	51
Unique public DNA variants reported	27
Individuals with public variants	55
Hidden variants	0
Date created	May 20, 2020
Date last updated	December 23, 2020
Version	CDKN1C:201223

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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
HGNC	1786
Entrez Gene	1028
PubMed articles	CDKN1C
OMIM - Gene	600856
OMIM - Diseases	BWS (Beckwith-Wiedemann syndrome) IMAGE (IMAGE syndrome)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000024	11	cyclin-dependent kinase inhibitor 1C (p57, Kip2), transcript variant 1	NM_000076.2	NP_000067.1	51
00000025	11	cyclin-dependent kinase inhibitor 1C (p57, Kip2), transcript variant 2	NM_001122630.1	NP_001116102.1	51
00000026	11	cyclin-dependent kinase inhibitor 1C (p57, Kip2), transcript variant 3	NM_001122631.1	NP_001116103.1	51

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