Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM c.491+1G>T
(
ENST00000263735.9,
ENST00000405271.5 )
EPCAM c.491+1G>T ( ENST00000263735.9, ENST00000405271.5 ) - Associated Disease
- Hereditary nonpolyposis colorectal neoplasms
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.491+1G>T AND Hereditary nonpolyposis colorectal neoplasms
- ClinVar Allele ID
- 221191
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.491+1G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001386830
- ClinVar Disease
- Hereditary nonpolyposis colorectal neoplasms
- Observed Origin Sample
- germline
Drugs