Annotation Detail
Information
- Associated Genes
- PRKD2
- Associated Variants
-
PRKD2 c.667-6C>T
(
ENST00000291281.9,
ENST00000433867.5,
ENST00000595515.5,
ENST00000600194.5,
ENST00000601806.5 )
PRKD2 c.667-6C>T ( ENST00000291281.9, ENST00000433867.5, ENST00000595515.5, ENST00000600194.5, ENST00000601806.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_016457.5(PRKD2):c.667-6C>T AND not provided
- ClinVar Allele ID
- 1232093
- ClinVar RefSeq Alternation Syntax
- NM_001079880.2:c.667-6C>T
- ClinVar RefSeq Alternation Syntax
- NM_001079881.2:c.667-6C>T
- ClinVar RefSeq Alternation Syntax
- NM_001079882.2:c.196-6C>T
- ClinVar RefSeq Alternation Syntax
- NM_016457.5:c.667-6C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001641355
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs