Annotation Detail
Information
- Associated Genes
- CFHR2
- Associated Variants
-
CFHR2 c.430+141T>A
(
ENST00000649960.2,
ENST00000367415.8,
ENST00000496448.6,
ENST00000473386.1,
ENST00000489703.2,
ENST00000367421.5,
ENST00000476712.6,
ENST00000649283.1 )
CFHR2 c.430+141T>A ( ENST00000367415.8, ENST00000367421.5, ENST00000473386.1, ENST00000476712.6, ENST00000489703.2, ENST00000496448.6, ENST00000649283.1, ENST00000649960.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005666.4(CFHR2):c.430+141T>A AND not provided
- ClinVar Allele ID
- 1278745
- ClinVar RefSeq Alternation Syntax
- NM_005666.4:c.430+141T>A
- ClinVar RefSeq Alternation Syntax
- NM_001312672.1:c.59-6722T>A
- 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/RCV001709362
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs