All variants in the CDH1 gene


Information The variants shown are described using the NM_004360.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.-285C>A r.(=) p.(=) - pathogenic g.68771034C>A g.68737131C>A - - CDH1_000077 expression cloning 0.66 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - Johan den Dunnen
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This database is one of the InSiGHT gene variant databases