Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM p.Val36Ile (p.V36I)
(
ENST00000405271.5,
ENST00000263735.9 )
EPCAM p.Val36Ile (p.V36I) ( ENST00000263735.9, ENST00000405271.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.106G>A (p.Val36Ile) AND not provided
- ClinVar Allele ID
- 221183
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.106G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-01-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003765336
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs