Annotation Detail
Information
- Associated Genes
- CFHR4
- Associated Variants
-
CFHR4 c.998-270G>C
(
ENST00000251424.8,
ENST00000608469.6,
ENST00000367416.6 )
CFHR4 c.998-270G>C ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001201550.3(CFHR4):c.998-270G>C AND not provided
- ClinVar Allele ID
- 1229200
- ClinVar RefSeq Alternation Syntax
- NM_006684.5:c.257-270G>C
- ClinVar RefSeq Alternation Syntax
- NM_001201551.2:c.995-270G>C
- ClinVar RefSeq Alternation Syntax
- NM_001201550.3:c.998-270G>C
- 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/RCV001637127
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs