Annotation Detail

Information
Associated Genes
CDH1
Associated Variants
CDH1 p.Leu711Val (p.L711V) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Leu711Val (p.L711V) ( ENST00000422392.6, ENST00000261769.10 )
Source Database
ClinVar
Description
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND Malignant tumor of breast
ClinVar Allele ID
27270
ClinVar RefSeq Alternation Syntax
NM_001317184.2:c.1948C>G
ClinVar RefSeq Alternation Syntax
NM_001317186.2:c.166C>G
ClinVar RefSeq Alternation Syntax
NM_001317185.2:c.583C>G
ClinVar RefSeq Alternation Syntax
NM_004360.5:c.2131C>G
Clinical Significance Description
Uncertain significance
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001356883
Observed Origin Sample
unknown
Drugs