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
- not specified
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) AND not specified
- 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
- Benign
- Clinical Significance Last Update
- 2019-02-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000212359
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs