Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Ser838Gly (p.S838G)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Ser838Gly (p.S838G) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 27272
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.2329A>G
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.547A>G
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.964A>G
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.2512A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2020-10-12
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000115857
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs