Annotation Detail
Information
- Associated Genes
- CFHR5
- Associated Variants
-
CFHR5 c.*802T>G
(
ENST00000256785.5 )
CFHR5 c.*802T>G ( ENST00000256785.5 ) - Associated Disease
- CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
- Source Database
- ClinVar
- Description
- NM_030787.4(CFHR5):c.*802T>G AND CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
- ClinVar Allele ID
- 278235
- ClinVar RefSeq Alternation Syntax
- NM_030787.4:c.*802T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000294081
- ClinVar Disease
- CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
- Observed Origin Sample
- germline
Drugs