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.740C>A r.(?) p.(S247*) III - pathogenic g.2905980G>T g.2884750G>T - - CDKN1C_000031 - PubMed: Hatada 1997 - - Unknown ? - - - - Eamonn Maher
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