Annotation Detail
Information
- Associated Genes
- CFAP65
- Associated Variants
-
CFAP65 p.Pro695Ser (p.P695S)
(
ENST00000341552.10,
ENST00000409865.7,
ENST00000410037.5,
ENST00000441968.5,
ENST00000453220.5 )
CFAP65 p.Pro695Ser (p.P695S) ( ENST00000341552.10, ENST00000409865.7, ENST00000410037.5, ENST00000441968.5, ENST00000453220.5 ) - Associated Disease
- CFAP65-related disorder
- Source Database
- ClinVar
- Description
- NM_194302.4(CFAP65):c.2083C>T (p.Pro695Ser) AND CFAP65-related disorder
- ClinVar Allele ID
- 2818941
- ClinVar RefSeq Alternation Syntax
- NM_001278295.1:c.2050C>T
- ClinVar RefSeq Alternation Syntax
- NM_194302.4:c.2083C>T
- ClinVar RefSeq Alternation Syntax
- NM_001278296.2:c.1888C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-02-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003938978
- ClinVar Disease
- CFAP65-related disorder
- Observed Origin Sample
- germline
Drugs