Annotation Detail
Information
- Associated Genes
- CAT
- Associated Variants
-
CAT p.Asp389= (p.D389=)
(
ENST00000241052.5 )
CAT p.Asp389= (p.D389=) ( ENST00000241052.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001752.4(CAT):c.1167C>T (p.Asp389=) AND not provided
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 549659
- ClinVar RefSeq Alternation Syntax
- NM_001752.4:c.1167C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-10-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000676055
- ClinVar Disease
- not provided
Drugs