Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR p.Ile352= (p.I352=)
(
ENST00000229022.9,
ENST00000550325.5,
ENST00000549336.6,
ENST00000395324.6 )
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 ) - Source Database
- ClinVar
- Description
- NM_000376.3(VDR):c.1056T>C (p.Ile352=) AND Periodontitis
- ClinVar Allele ID
- 331082
- ClinVar RefSeq Alternation Syntax
- NM_000376.3:c.1056T>C
- ClinVar RefSeq Alternation Syntax
- NM_001017536.2:c.1206T>C
- ClinVar RefSeq Alternation Syntax
- NM_001017535.2:c.1056T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374661.1:c.1056T>C
- ClinVar RefSeq Alternation Syntax
- NM_001364085.2:c.1056T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374662.1:c.1056T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-04-20
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003992272
- Observed Origin Sample
- germline
Drugs