All variants in the CDKN1C gene

Information The variants shown are described using the NM_000076.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 c.139C>T r.(?) p.(Q47*) I - pathogenic g.2906581G>A g.2885351G>A - - CDKN1C_000013 - PubMed: Hatada 1996 - - Germline yes - - - - Eamonn Maher
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