Annotation Detail
Information
- Associated Genes
- PRKG1 MIR605
- Associated Variants
-
PRKG1 c.478+146316T>C
(
ENST00000645324.1,
ENST00000373980.11,
ENST00000643582.1,
ENST00000401604.8,
ENST00000643704.1,
ENST00000373976.9 )
PRKG1 c.478+146316T>C ( ENST00000373976.9, ENST00000373980.11, ENST00000401604.8, ENST00000643582.1, ENST00000643704.1, ENST00000645324.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006258.4(PRKG1):c.478+146316T>C AND not provided
- ClinVar Allele ID
- 1224317
- ClinVar RefSeq Alternation Syntax
- NR_030336.1:n.74T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374782.1:c.478+146316T>C
- ClinVar RefSeq Alternation Syntax
- NM_006258.4:c.478+146316T>C
- ClinVar RefSeq Alternation Syntax
- NM_001098512.3:c.433+146316T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-07-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001620958
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs