Annotation Detail
Information
- Associated Genes
- RIPOR2
- Associated Variants
-
RIPOR2 p.Arg868Gln (p.R868Q)
(
ENST00000259698.9,
ENST00000538035.6,
ENST00000613507.4,
ENST00000643898.2 )
RIPOR2 p.Arg868Gln (p.R868Q) ( ENST00000259698.9, ENST00000538035.6, ENST00000613507.4, ENST00000643898.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) AND not provided
- ClinVar Allele ID
- 496434
- ClinVar RefSeq Alternation Syntax
- NM_001346031.2:c.2453G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346032.2:c.2453G>A
- ClinVar RefSeq Alternation Syntax
- NM_014722.5:c.2603G>A
- ClinVar RefSeq Alternation Syntax
- NM_001286445.3:c.2540G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002232243
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs