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     
+/. - c.822_826delinsGAGCTG r.[822_826delinsgagctg,821_826delinsagctg] p.[Asp274Glufs*12,Asp274GlufsTer47] - - pathogenic (maternal) g.2905359_2905363delinsCAGCTC g.2884129_2884133delinsCAGCTC - - CDKN1C_000131 asymptomatic mother inherited variant from mosaic father PubMed: Berland 2022 - - Germline - - - - - Johan den Dunnen
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