All variants in the CDH1 gene


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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 1i c.48+1G>A r.spl? p.? ACMG pathogenic g.68771367G>A g.68737464G>A - - CDH1_000195 ACMG grading: PVS1, PM2, PP5 (=class 5) - - - Germline ? - - 0 - Andreas Laner
+/. 1i c.48+1G>A r.spl p.? - pathogenic g.68771367G>A g.68737464G>A IVS1+1G>A - CDH1_000195 - PubMed: Pandalai 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1i c.48+1G>A r.spl? p.? - pathogenic g.68771367G>A g.68737464G>A - - CDH1_000195 - PubMed: Petridis 2014 - - Germline - - - 0 - Johan den Dunnen
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This database is one of the InSiGHT gene variant databases