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 ) - Associated Disease
- Vitamin D-dependent rickets type II with alopecia
- Source Database
- ClinVar
- Description
- NM_000376.3(VDR):c.1025-49G>T AND Vitamin D-dependent rickets type II with alopecia
- 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
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243375
- ClinVar Disease
- Vitamin D-dependent rickets type II with alopecia
- Observed Origin Sample
- germline
Drugs