Annotation Detail
Information
- Associated Genes
- CDH23 LOC111982869
- Associated Variants
-
CDH23 p.Tyr2633= (p.Y2633=)
(
ENST00000398788.4,
ENST00000619887.4,
ENST00000224721.12 )
CDH23 p.Tyr2633= (p.Y2633=) ( ENST00000224721.12, ENST00000398788.4, ENST00000619887.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_022124.6(CDH23):c.7899C>T (p.Tyr2633=) AND not provided
- ClinVar Allele ID
- 1629813
- ClinVar RefSeq Alternation Syntax
- NM_001171933.1:c.1179C>T
- ClinVar RefSeq Alternation Syntax
- NM_001171934.1:c.1179C>T
- ClinVar RefSeq Alternation Syntax
- NM_022124.6:c.7899C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-10-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002202790
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs