Annotation Detail
Information
- Associated Genes
- CFHR5
- Associated Variants
-
CFHR5 c.253+289C>T
(
ENST00000699466.1,
ENST00000699468.1,
ENST00000256785.5 )
CFHR5 c.253+289C>T ( ENST00000256785.5, ENST00000699466.1, ENST00000699468.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_030787.4(CFHR5):c.253+289C>T AND not provided
- ClinVar Allele ID
- 1267224
- ClinVar RefSeq Alternation Syntax
- NM_030787.4:c.253+289C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001688252
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs