Annotation Detail

Information
Associated Genes
CDH1
Associated Variants
CDH1 p.Thr340Ala (p.T340A) ( ENST00000261769.10, ENST00000422392.6 )
CDH1 p.Thr340Ala (p.T340A) ( ENST00000261769.10, ENST00000422392.6 )
Associated Disease
gastric adenocarcinoma
Source Database
ClinVar
Description
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) AND Gastric adenocarcinoma
ClinVar Allele ID
27284
ClinVar RefSeq Alternation Syntax
NM_001317186.2:c.-802A>G
ClinVar RefSeq Alternation Syntax
NM_001317184.2:c.1018A>G
ClinVar RefSeq Alternation Syntax
NM_001317185.2:c.-598A>G
ClinVar RefSeq Alternation Syntax
NM_004360.5:c.1018A>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2017-11-29
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000677871
ClinVar Disease
Gastric adenocarcinoma
Observed Origin Sample
germline
Drugs