All variants in the CDH1 gene


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

2 entries on 1 page. Showing entries 1 - 2.
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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.-54G>C r.(=) p.(=) - pathogenic g.68771265G>C g.68737362G>C - - CDH1_000076 expression cloning 0.66 activity in luciferase promoter construct PubMed: Nakamura 2002 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-54G>C r.(?) p.(=) - likely benign g.68771265G>C g.68737362G>C - - CDH1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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This database is one of the InSiGHT gene variant databases