Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Ala617Thr (p.A617T)
(
ENST00000422392.6,
ENST00000261769.10 )
CDH1 p.Ala617Thr (p.A617T) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- blepharocheilodontic syndrome 1 Neoplasm of ovary Malignant tumor of prostate Hereditary diffuse gastric adenocarcinoma Familial cancer of breast endometrial carcinoma
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND multiple conditions
- ClinVar Allele ID
- 27271
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.301G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-117G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.1666G>A
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.1849G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490357
- ClinVar Disease
- Malignant tumor of prostate
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Neoplasm of ovary
- ClinVar Disease
- Endometrial carcinoma
- ClinVar Disease
- Blepharocheilodontic syndrome 1
- Observed Origin Sample
- unknown
Drugs