Annotation Detail
Information
- Associated Genes
- CINP
- Associated Variants
-
CINP p.Arg164His (p.R164H)
(
ENST00000541568.6,
ENST00000216756.11,
ENST00000536961.6 )
CINP p.Arg164His (p.R164H) ( ENST00000216756.11, ENST00000536961.6, ENST00000541568.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_032630.3(CINP):c.491G>A (p.Arg164His) AND not provided
- ClinVar Allele ID
- 1241849
- ClinVar RefSeq Alternation Syntax
- NM_032630.3:c.491G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320046.2:c.*4G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001657441
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs