All variants in the CDH1 gene


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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 3 c.185G>T r.(?) p.(Gly62Val) - pathogenic g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Shinmura 1999 - - Germline - - - 0 - Global Variome, with Curator vacancy
-/. 3 c.185G>T r.(?) p.(Gly62Val) - benign g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 14/7051 cases breast cancer - 0 - Yukihide Momozawa
-/. 3 c.185G>T r.(?) p.(Gly62Val) - benign g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 47/11241 controls - 0 - Yukihide Momozawa
-/. - c.185G>T r.(?) p.(Gly62Val) - benign g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 1/11241 controls - 0 - Yukihide Momozawa
?/. - c.185G>T r.(?) p.(Gly62Val) - VUS g.68835594G>T g.68801691G>T - - CDH1_000033 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786203727 Germline - 43/12490 controls - 0 - Yukihide Momozawa
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This database is one of the InSiGHT gene variant databases