Annotation Detail

Information
Associated Genes
VDR
Associated Variants
VDR c.1025-49G>T ( ENST00000550325.5, ENST00000549336.6, ENST00000395324.6, ENST00000229022.9 )
VDR c.1025-49G>T ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
Source Database
ClinVar
Description
NM_000376.3(VDR):c.1025-49G>T AND Periodontitis
Observed Origin Sample
germline
ClinVar Allele ID
1242175
ClinVar RefSeq Alternation Syntax
NM_000376.3:c.1025-49G>T
ClinVar RefSeq Alternation Syntax
NM_001017536.2:c.1175-49G>T
ClinVar RefSeq Alternation Syntax
NM_001374662.1:c.1025-49G>T
ClinVar RefSeq Alternation Syntax
NM_001017535.2:c.1025-49G>T
ClinVar RefSeq Alternation Syntax
NM_001364085.2:c.1025-49G>T
ClinVar RefSeq Alternation Syntax
NM_001374661.1:c.1025-49G>T
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/RCV003992537
Drugs