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
- not specified
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) AND not specified
- 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
- Likely benign
- Clinical Significance Last Update
- 2022-12-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000212390
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs