Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR p.? (p.?)
(
ENST00000229022.9,
ENST00000395324.6,
ENST00000549336.6,
ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000376.3(VDR):c.2T>C (p.Met1Thr) AND not provided
- ClinVar Allele ID
- 331088
- ClinVar RefSeq Alternation Syntax
- NM_001017536.2:c.152T>C
- ClinVar RefSeq Alternation Syntax
- NM_001364085.2:c.2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374661.1:c.2T>C
- ClinVar RefSeq Alternation Syntax
- NM_000376.3:c.2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001017535.2:c.2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374662.1:c.2T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001512350
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs