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 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) AND Hereditary cancer-predisposing syndrome
- 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
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-02-07
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000130551
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs