Annotation Detail
Information
- Associated Genes
- ZNRD2 LOC130006035
- Associated Variants
-
ZNRD2 p.Gly5Arg (p.G5R)
(
ENST00000526877.1,
ENST00000527920.5,
ENST00000309328.8,
ENST00000531405.5 )
ZNRD2 p.Gly5Arg (p.G5R) ( ENST00000309328.8, ENST00000526877.1, ENST00000527920.5, ENST00000531405.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_006396.3(ZNRD2):c.13G>A (p.Gly5Arg) AND not specified
- ClinVar Allele ID
- 2434242
- ClinVar RefSeq Alternation Syntax
- NM_001303024.2:c.-192G>A
- ClinVar RefSeq Alternation Syntax
- NM_006396.3:c.13G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-02-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004251918
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs